Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article pro...
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| Published in | Bone (New York, N.Y.) Vol. 146; p. 115872 |
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| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.05.2021
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitudinal research is lacking, to summarize the current knowledge on the nature, incidence, chronology, and interrelationships of achondroplasia-related comorbidities across the lifespan. When possible, data related to adults are presented separately from data specific to children and adolescents. Gaps in knowledge regarding clinical care are identified and areas for future research are recommended and discussed. |
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| AbstractList | Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitudinal research is lacking, to summarize the current knowledge on the nature, incidence, chronology, and interrelationships of achondroplasia-related comorbidities across the lifespan. When possible, data related to adults are presented separately from data specific to children and adolescents. Gaps in knowledge regarding clinical care are identified and areas for future research are recommended and discussed. |
| ArticleNumber | 115872 |
| Author | Cheung, Moira S. Tofts, Louise Savarirayan, Ravi Okenfuss, Ericka Ozono, Keiichi Hoover-Fong, Julie Mohnike, Klaus Irving, Melita Offiah, Amaka C. Hecht, Jacqueline T. Raggio, Cathleen Kelly, Dominique Pan, Wayne Ireland, Penny Fano, Virginia Hagenas, Lars Shediac, Renée |
| Author_xml | – sequence: 1 givenname: Julie orcidid: 0000-0002-1242-5626 surname: Hoover-Fong fullname: Hoover-Fong, Julie email: jhoover2@jhmi.edu organization: McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA – sequence: 2 givenname: Moira S. surname: Cheung fullname: Cheung, Moira S. organization: Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK – sequence: 3 givenname: Virginia orcidid: 0000-0003-3311-2220 surname: Fano fullname: Fano, Virginia organization: Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina – sequence: 4 givenname: Lars surname: Hagenas fullname: Hagenas, Lars organization: Karolinska Institute, Division of Pediatric Endocrinology, Department of Women's and Children's Health, Stockholm, Sweden – sequence: 5 givenname: Jacqueline T. surname: Hecht fullname: Hecht, Jacqueline T. organization: University of Texas, Houston, McGovern Medical School, Department of Pediatrics, Houston, TX, USA – sequence: 6 givenname: Penny surname: Ireland fullname: Ireland, Penny organization: Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, Brisbane, Queensland, Australia – sequence: 7 givenname: Melita surname: Irving fullname: Irving, Melita organization: Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK – sequence: 8 givenname: Klaus orcidid: 0000-0001-5113-8657 surname: Mohnike fullname: Mohnike, Klaus organization: Otto-von-Guericke-University Magdeburg, Department of Pediatrics, Magdeburg, Germany – sequence: 9 givenname: Amaka C. surname: Offiah fullname: Offiah, Amaka C. organization: Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK – sequence: 10 givenname: Ericka orcidid: 0000-0002-9757-8508 surname: Okenfuss fullname: Okenfuss, Ericka organization: Kaiser Permanente - Sacramento Medical Center, Department of Genetics, Sacramento, CA, USA – sequence: 11 givenname: Keiichi orcidid: 0000-0002-6517-8825 surname: Ozono fullname: Ozono, Keiichi organization: Osaka University Graduate School of Medicine, Department of Pediatrics, Osaka, Japan – sequence: 12 givenname: Cathleen surname: Raggio fullname: Raggio, Cathleen organization: Hospital for Special Surgery, Pediatric Orthopedic Surgery Service, New York, NY, USA – sequence: 13 givenname: Louise orcidid: 0000-0002-3961-0493 surname: Tofts fullname: Tofts, Louise organization: Kids Rehab, The Children's Hospital at Westmead, Westmead, NSW, Australia – sequence: 14 givenname: Dominique surname: Kelly fullname: Kelly, Dominique organization: BioMarin Pharmaceutical Inc., Global Medical Affairs, Novato, CA, USA – sequence: 15 givenname: Renée orcidid: 0000-0001-6468-7866 surname: Shediac fullname: Shediac, Renée organization: BioMarin Pharmaceutical Inc., Global Medical Affairs, Novato, CA, USA – sequence: 16 givenname: Wayne orcidid: 0000-0002-9530-4984 surname: Pan fullname: Pan, Wayne organization: BioMarin Pharmaceutical Inc., Global Medical Affairs, Novato, CA, USA – sequence: 17 givenname: Ravi orcidid: 0000-0002-5105-8427 surname: Savarirayan fullname: Savarirayan, Ravi organization: Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia |
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| Cites_doi | 10.1111/j.1469-8749.2012.04234.x 10.1080/09638288.2016.1226969 10.1097/00005792-199001000-00005 10.1111/j.1399-0004.1989.tb02912.x 10.6061/clinics/2018/e324 10.1002/ajmg.a.38150 10.1002/ajmg.a.38633 10.1002/(SICI)1096-8628(19960301)62:1<91::AID-AJMG18>3.0.CO;2-Q 10.1007/s11325-010-0432-6 10.23736/S0026-4946.16.04401-7 10.1002/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P 10.1093/ajcn/88.2.364 10.1126/scitranslmed.3006247 10.1002/ajmg.a.31919 10.1002/ajmg.1307 10.1007/s11999-010-1516-0 10.3171/2014.5.PEDS12614 10.1016/S0140-6736(18)32485-1 10.1302/0301-620X.84B5.0840680 10.1002/ajmg.1320470540 10.1016/S0022-3476(98)70358-0 10.1136/jmg.23.4.328 10.1097/00003086-197110000-00011 10.1302/0301-620X.63B4.7298674 10.1024/1422-4917/a000385 10.1172/JCI83926 10.1002/bdra.23210 10.1007/s12519-016-0051-9 10.3171/2018.9.PEDS18410 10.1093/ajcp/68.1.68 10.1002/ajmg.a.61272 10.1542/peds.95.3.443 10.1124/jpet.119.258251 10.1007/s11136-016-1455-7 10.1002/ajmg.a.20127 10.1002/ajmg.a.37779 10.1111/cge.13542 10.1378/chest.93.2.364 10.1038/s41436-018-0070-0 10.1007/s11136-019-02102-2 10.1038/371252a0 10.2106/00004623-198163090-00007 10.2106/00004623-197759010-00016 10.3171/2010.3.SPINE09629 10.1016/S0140-6736(07)61090-3 10.1097/00005650-199902000-00003 10.1016/j.jpain.2014.05.009 10.1002/ajmg.1320310314 10.1002/ajmg.a.37776 10.1097/00004703-199706000-00001 10.1302/0301-620X.88B9.17758 10.1002/ajmg.a.61120 10.29245/2572-9411/2017/4.1113 10.1097/01241398-199711000-00006 10.1002/ajmg.a.37394 10.3171/2009.3.PEDS08344 10.1186/s13023-021-01681-z 10.1002/ajmg.a.35373 10.1136/adc.69.2.191 10.1002/ajmg.a.61825 10.1515/jpem-2017-0471 10.1002/ajmg.a.40356 10.1371/journal.pone.0195876 10.1002/ajmg.a.37385 10.1016/j.rehab.2018.05.362 10.1097/DBP.0b013e3181c72052 10.1007/s00381-019-04227-8 10.1111/j.1469-8749.2011.04050.x 10.1002/ajmg.a.61402 10.1002/ajmg.a.35441 10.1056/NEJMoa1813446 10.1111/cge.12045 10.1001/archotol.133.3.237 10.1016/j.gaitpost.2018.11.019 10.3171/jns.1980.52.4.0463 10.1186/1750-1172-2-10 10.1007/s00330-012-2488-0 10.1016/S0022-3476(88)80157-4 10.1016/S0022-3476(78)81152-4 10.1080/02688697.2020.1817315 10.1002/ajmg.a.38312 10.3171/jns.1981.54.1.0049 10.1002/ajmg.a.61400 10.1542/peds.2005-1440 10.2147/TACG.S51485 10.1136/jmg.35.9.705 10.1002/ajmg.1320320421 10.1007/s00223-019-00518-z 10.1136/jmg.16.2.140 10.1136/adc.2010.189092 10.1007/s00431-010-1302-8 10.2106/00004623-197052070-00001 10.1080/09638288.2018.1447028 10.1016/S0194-5998(99)70414-6 10.1002/ajmg.a.38130 10.1016/j.jpeds.2009.04.031 10.1186/s13023-020-01397-6 10.1016/j.bone.2019.07.020 10.1016/0092-8674(94)90302-6 10.1007/s11999-008-0142-6 10.1542/peds.2020-1010 10.3389/fphys.2018.00410 10.1097/BRS.0b013e3181e7cb2a 10.1002/(SICI)1096-8628(19990416)88:2<145::AID-AJMG10>3.0.CO;2-B 10.1111/j.1469-1809.1970.tb01648.x 10.1007/s11914-017-0347-2 10.1007/s11136-019-02210-z 10.1016/B978-0-7020-4086-3.00036-9 10.3171/jns.1989.71.1.0042 10.1159/000491391 |
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| Keywords | Achondroplasia Genu varum Fibroblast growth factor receptor 3 (FGFR3) Skeletal dysplasia Foramen magnum stenosis Natural history Cervicomedullary decompression |
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| References | Ireland, Pacey, Zankl, Edwards, Johnston, Savarirayan (bb0030) 2014; 7 Horton, Rotter, Rimoin, Scott, Hall (bb0060) 1978; 93 Jeong, Song, Keny, Telang, Suh, Hong (bb0275) 2006; 88 Beaudreuil, Huet, Cohen-Solal, Orcel, Yelnik (bb0600) 2018; 61 del Pino, Fano, Adamo (bb0675) 2019; 179 Tunkel, Alade, Kerbavaz, Smith, Rose-Hardison, Hoover-Fong (bb0245) 2012; 158A Tenconi, Khirani, Amaddeo, Michot, Baujat, Couloigner, De Sanctis, James, Zerah, Cormier-Daire, Fauroux (bb0300) 2017; 173 Witt, Rohenkohl, Bullinger, Sommer, Kahrs, Klingebiel, Klingebiel, Quitmann (bb0490) 2017; 15 Lutter, Langer (bb0615) 1977; 59 Hoover-Fong, Alade, Ain, Berkowitz, Bober, Carter, Hecht, Hoerschemeyer, Krakow, MacCarrick, Mackenzie, Mendoza, Okenfuss, Popplewell, Raggio, Schulze, McGready (bb0710) 2020; 182 Kiemann, Ireland, Topfer, Johnston (bb0365) 2018; 60 Hoover-Fong, Scott, Jones (bb0510) 2020; 145 Allanson, Hall (bb0700) 1986; 67 White, Parnell, Kifle, Blackledge, Bompadre (bb0535) 2016; 170a Afsharpaiman, Sillence, Sheikhvatan, Ault, Waters (bb0310) 2011; 15 Sims, Burden, Payton, Onambele-Pearson, Morse (bb0480) 2019; 68 Buratti, Eickhoff, Modaff, Pauli (bb0680) 2020; 182 Waters, Everett, Sillence, Fagan, Sullivan (bb0290) 1993; 69 Tachibana, Suwa, Nishiyama, Matsuda (bb0660) 1997; 60 Wynne-Davies, Walsh, Gormley (bb0670) 1981; 63b Gollust, Thompson, Gooding, Biesecker (bb0150) 2003; 120A Kopits (bb0650) 1980; 146 Varni, Seid, Rode (bb0730) 1999; 37 Wong-Baker FACES Foundation (bb0745) Hunter, Bankier, Rogers, Sillence, Scott (bb0155) 1998; 35 Hoover-Fong, Schulze, McGready, Barnes, Scott (bb0185) 2008; 88 Sciubba, Noggle, Marupudi, Bagley, Bookland, Carson, Ain, Jallo (bb0220) 2007; 106 Simmons, Hashmi, Scheuerle, Canfield, Hecht (bb0325) 2014; 100 Ireland, Savarirayan, Pocovi, Tate, Couseens, Tofts, Munns, Pacey (bb0495) 2021; 16 Saint-Laurent, Garcia, Sarrazy, Dumas, Authier, Sore, Tran, Gual, Gennero, Salles, Gouze (bb0705) 2018; 13 Hashmi, Gamble, Hoover-Fong (bb0335) 2018; 176 Pfizer (bb0440) Dougherty, Shaunak, Irving, Thompson, Cheung (bb0530) 2018 Bailey (bb0265) 1971; 80 Bailey (bb0280) 1970; 52 Orioli, Castilla, Barbosa-Neto (bb0020) 1986; 23 Ascendis Pharma A/S (bb0435) Ireland, McGill, Zankl, Ware, Pacey, Ault, Savarirayan, Sillence, Thompson, Townshend, Johnston (bb0120) 2011; 53 Merker, Neumeyer, Hertel, Grigelioniene, Mohnike, Hagenas (bb0350) 2018; 176 Sunnaas Rehabilitation Hospital (bb0395) Shiang, Thompson, Zhu, Church, Fielder, Bocian, Winokur, Wasmuth (bb0010) 1994; 78 del Pino, Ramos Mejia, Fano (bb0685) 2018; 176 Rousseau, Bonaventure, Legeai-Mallet, Pelet, Rozet, Maroteaux, Le Merrer, Munnich (bb0005) 1994; 371 Oberklaid, Danks, Jensen, Stace, Rosshandler (bb0015) 1979; 16 Savarirayan, Irving, Bacino, Bostwick, Charrow, Cormier-Daire, Le Quan Sang, Dickson, Harmatz, Phillips, Owen, Cherukuri, Jayaram, Jeha, Larimore, Chan, Huntsman Labed, Day, Hoover-Fong (bb0095) 2019; 381 Dhiman, Albaghdadi, Zogg, Sharma, Hoover-Fong, Ain, Haider (bb0140) 2017; 26 Hoover-Fong (bb0690) Thompson, Hecht, Bohan, Kramer, Davidson, Brandt, Fletcher (bb0565) 1999; 88 McCann, de Graaff, Dorris, Disma, Withington, Bell, Grobler, Stargatt, Hunt, Sheppard, Marmor, Giribaldi, Bellinger, Hartmann, Hardy, Frawley, Izzo, von Ungern Sternberg, Lynn, Wilton, Mueller, Polaner, Absalom, Szmuk, Morton, Berde, Soriano, Davidson (bb0555) 2019; 393 Sims, Onambele-Pearson, Burden, Payton, Morse (bb0485) 2018; 9 Madsen, Fredwall, Maanum, Henriksen, Slettahjell (bb0410) 2019; 179 Brouwer, Lubout, van Dijk, Vleggeert-Lankamp (bb0560) 2012; 22 Alade, Tunkel, Schulze, McGready, Jallo, Ain, Yost, Hoover-Fong (bb0125) 2013; 84 Yang, Corbett, Brough, Heidelberger, Bernstein (bb0200) 1977; 68 Zaffanello, Cantalupo, Piacentini, Gasperi, Nosetti, Cavarzere, Ramaroli, Mittal, Antoniazzi (bb0630) 2017; 13 Rekate (bb0570) 2019; 35 Doherty, Hertel, Hove, Haagerup (bb0575) 2017; 2 Hall (bb0610) 1988; 48 Bloemeke, Sommer, Witt, Dabs, Badia, Bullinger, Quitmann (bb0735) 2019; 41 Ceroni, Soares, Testai, Kawahira, Yamamoto, Sugayama, Oliveira, Bertola, Kim (bb0065) 2018; 73 Morgan, Young (bb0605) 1980; 52 Breinholt, Rasmussen, Mygind, Kjelgaard-Hansen, Faltinger, Bernhard, Zettler, Hersel (bb0105) 2019; 370 Murdoch, Walker, Hall, Abbey, Smith, McKusick (bb0665) 1970; 33 Modi, Suh, Song, Yang (bb0270) 2008; 466 Hall (bb0625) 1988; 112 J.M. Legare, R.M. Pauli, J.T. Hecht, M.B. Bober, C. Smid, P. Modaff, M.E. Little, D.F. Rodriguez-Buritica, M.E. Serna, A.Y. Alade, C. Liu, J.E. Hoover-Fong, S.S. Hashmi, Co-occurrences in achondroplasia – craniosynostosis, seizures, and decreased risk of diabetes mellitus, Am. J. Med. Genet. (In press). Sommer, Blömeke, Dabs, Witt, Bullinger, Quitmann (bb0740) 2017; 39 Nelson (bb0595) 1988; 48 Jennings, Ditro, Bober (bb0470) 2019; 28 Nadel, Wilkinson, Garton, Muraszko, Maher (bb0205) 2018; 23 White, Bompadre, Goldberg, Bober, Campbell, Cho, Hoover-Fong, Mackenzie, Parnell, Raggio, Rapoport, Spencer, Savarirayan (bb0550) 2016; 170a Fredwall, Linge, Leinhard, Kjønigsen, Eggesbø, Weedon-Fekjær, Lidal, Månum, Savarirayan, Tonstad (bb0400) 2020 Stokes, Pyeritz, Wise, Fairclough, Murphy (bb0075) 1988; 93 BioMarin Pharmaceutical (bb0420) QED Therapeutics Inc (bb0455) Komla-Ebri, Dambroise, Kramer, Benoist-Lasselin, Kaci, Le Gall, Martin, Busca, Barbault, Graus-Porta, Munnich, Kneissel, Di Rocco, Biosse-Duplan, Legeai-Mallet (bb0110) 2016; 126 Zaffanello, Piacentini, Sacchetto, Pietrobelli, Gasperi, Barillari, Cardobi, Nosetti, Ramaroli, Antoniazzi (bb0635) 2018; 27 D. Bethem, R.B. Winter, L. Lutter, J.H. Moe, D.S. Bradford, J.E. Lonstein, L.O. Langer, Spinal disorders of dwarfism. Review of the literature and report of eighty cases, J. Bone Joint Surg. Am. 63 (9) (1981) 1412–1425. Hecht, Francomano, Horton, Annegers (bb0320) 1987; 41 Shelmerdine, Brittain, Arthurs, Calder (bb0045) 2016; 170 Reynolds, Modaff, Pauli (bb0175) 2001; 101 Galasso, Siracusano, El Malhany, Cerminara, Pitzianti, Terribili (bb0255) 2019; 71 King, Vachhrajani, Drake, Rutka (bb0580) 2009; 4 Hoover-Fong, Bober, Hashmi, Hecht, Legare, Little, McGready, Modaff, Pauli, Rodriguez-Buritica, Schulze, Serna, Smid, Alade (bb0520) 2018 Ismail, Thomas, Hosny, Ashaat, Ashaat, Zaki (bb0055) 2019; 13 Fowler, Glinski, Reiser, Horton, Pauli (bb0050) 1997; 18 BioMarin Pharmaceutical (bb0425) Sanders, Sheldon, Charrow (bb0375) 2019; 21 J.E. Hoover-Fong, A.Y. Alade, S. Hashmi, CLARITY – Achondroplasia Natural History Study – a multi-center retrospective cohort study of achondroplasia in the US, (In press). Brinkmann, Schlitt, Zorowka, Spranger (bb0250) 1993; 47 Mahomed, Spellmann, Goldberg (bb0465) 1998; 78 Owen, Smalley, D'Alessio, Mozzoli, Knerr, Kendrick, Kavle, Donohoe, Tappy, Boden (bb0190) 1990; 69 Julliand, Boule, Baujat, Ramirez, Couloigner, Beydon, Zerah, di Rocco, Lemerrer, Cormier-Daire, Fauroux (bb0285) 2012; 158A Kitoh, Kitakoji, Kurita, Katoh, Takamine (bb0090) 2002; 84 Hecht, Hood, Schwartz, Hennessey, Bernhardt, Horton (bb0180) 1988; 31 Hecht, Horton, Reid, Pyeritz, Chakraborty (bb0195) 1989; 32 Mohomed, Spelmann, Goldberg (bb0145) 1998; 78 Pauli, Breed, Horton, Glinski, Reiser (bb0080) 1997; 17 Okenfuss, Moghaddam, Avins (bb0340) 2020; 182 World Health Organization (bb0460) 2007 Stoll, Dott, Roth, Alembik (bb0025) 1989; 35 BioMarin Pharmaceutical (bb0430) Collins, Choi (bb0240) 2007; 133 de Vries, Johansen (bb0415) 2020 del Pino, Fano, Lejarraga (bb0360) 2011; 170 Kopits (bb0260) 1988; 48 Hunter, Reid, Pauli, Scott (bb0070) 1996; 62 Carlisle, Ting, Abdullah, Skolasky, Schkrohowsky, Yost, Rigamonti, Ain (bb0620) 2011; 36 Fredwall, Maanum, Johansen, Snekkevik, Savarirayan, Lidal (bb0115) 2020; 97 Steinbok, Hall, Flodmark (bb0230) 1989; 71 Wigg, Tofts, Benson, Porter (bb0640) 2016; 170 Ain, Abdullah, Ting, Skolasky, Carlisle, Schkrohowsky, Rigamonti (bb0160) 2010; 13 Sisk, Heatley, Borowski, Leverson, Pauli (bb0315) 1999; 120 Mogayzel, Carroll, Loughlin, Hurko, Francomano, Marcus (bb0295) 1998; 132 Rohenkohl, Sommer, Bestges, Kahrs, Klingebiel, Bullinger, Quitmann (bb0720) 2015; 43 Ireland, Donaghey, McGill, Zankl, Ware, Pacey, Ault, Savarirayan, Sillence, Thompson, Townshend, Johnston (bb0165) 2012; 54 Garcia, Dirat, Tognacci, Rochet, Mouska, Bonnafous, Patouraux, Tran, Gual, Le Marchand-Brustel, Gennero, Gouze (bb0100) 2013; 5 Ireland, Johnson, Donaghey, Johnston, McGill, Zankl, Ware, Pacey, Ault, Savarirayan, Sillence, Thompson, Townshend (bb0170) 2010; 31 Ednick, Tinkle, Phromchairak, Egelhoff, Amin, N (bb0505) 2009; 155 Fredwall, Steen, de Vries, Rustad, Eggesbø, Weedon-Fekjær, Lidal, Savarirayan, Månum (bb0405) 2020; 15 Mukherjee, Pressman, Krakow, Rimoin, Danielpour (bb0215) 2014; 14 Cocca, Thompson, Rahim, Irving, Farquhar, Santos, Cheung (bb0450) 2020 J.M. Legare, C. Liu, R.M. Pauli, A.Y. Alade, S.S. Hashmi, J.W. Campbell, C. Smid, P. Modaff, M.E. Little, D.F. Rodriguez-Buritica, M.E. Serna, J.T. Hecht, J.E. Hoover-Fong, M.B. Bober, CLARITY: cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers over 60 years J. Neurosurg. Pediatr. (In Press). Wright, Irving (bb0085) 2012; 97 Merker, Neumeyer, Hertel, Grigelioniene, Makitie (bb0345) 2018; 176 Hecht, Bodensteiner, Butler (bb0500) 2014; 119 (bb0545) 1995; 95 Cheung, Irving, Cocca, Santos, Shaunak, Dougherty, Siddiqui, Gringras, Thompson (bb0445) 2020 Pauli, Horton, Glinski, Reiser (bb0515) 1995; 56 Hoover-Fong, McGready, Schulze, Alade, Scott (bb0040) 2017; 173 Yamada, Nakamura, Tajima, Kageyama (bb0210) 1981; 54 Kim, Scuderi, Dennis, Nakano (bb0655) 2011; 469 del Pino, Fano, Adamo (bb0695) 2018; 31 Tofts, Das, Collins, Burton (bb0355) 2017; 173 Unger, Bonafe, Gouze (bb0645) 2017; 15 Bloemeke, Sommer, Witt, Bullinger, Nordon, Badia, Gonzalez, Leiva-Gea, Delgado Rufino, Mayoral-Cleries, Romero-Sanchiz, Clamagirand Saiz, Nogueira-Arjona, Mohnike, Quitmann (bb0715) 2019; 28 Kennedy, Roll, Schraudner, Murphy, McPherson (bb0475) 2014; 15 Horton, Hall, Hecht (bb0035) 2007; 370 Matsushita, Kitoh, Mishima, Yamashita, Haga, Fujiwara, Ozono, Kubota, Kitaoka, Ishiguro (bb0135) 2019; 104 Berkowitz, Grundfast, Scott, Saal, Stern, Ros Pauli (10.1016/j.bone.2021.115872_bb0080) 1997; 17 Hunter (10.1016/j.bone.2021.115872_bb0155) 1998; 35 BioMarin Pharmaceutical (10.1016/j.bone.2021.115872_bb0420) Carlisle (10.1016/j.bone.2021.115872_bb0620) 2011; 36 Doherty (10.1016/j.bone.2021.115872_bb0575) 2017; 2 Bailey (10.1016/j.bone.2021.115872_bb0265) 1971; 80 Rousseau (10.1016/j.bone.2021.115872_bb0005) 1994; 371 Stokes (10.1016/j.bone.2021.115872_bb0075) 1988; 93 Oberklaid (10.1016/j.bone.2021.115872_bb0015) 1979; 16 Ireland (10.1016/j.bone.2021.115872_bb0495) 2021; 16 Hecht (10.1016/j.bone.2021.115872_bb0180) 1988; 31 del Pino (10.1016/j.bone.2021.115872_bb0695) 2018; 31 Ireland (10.1016/j.bone.2021.115872_bb0165) 2012; 54 10.1016/j.bone.2021.115872_bb0390 Thompson (10.1016/j.bone.2021.115872_bb0565) 1999; 88 Fredwall (10.1016/j.bone.2021.115872_bb0400) 2020 Modi (10.1016/j.bone.2021.115872_bb0270) 2008; 466 Ireland (10.1016/j.bone.2021.115872_bb0030) 2014; 7 Sims (10.1016/j.bone.2021.115872_bb0480) 2019; 68 Jennings (10.1016/j.bone.2021.115872_bb0470) 2019; 28 del Pino (10.1016/j.bone.2021.115872_bb0360) 2011; 170 Hoover-Fong (10.1016/j.bone.2021.115872_bb0690) Orioli (10.1016/j.bone.2021.115872_bb0020) 1986; 23 Cocca (10.1016/j.bone.2021.115872_bb0450) 2020 Ireland (10.1016/j.bone.2021.115872_bb0170) 2010; 31 Sunnaas Rehabilitation Hospital (10.1016/j.bone.2021.115872_bb0395) Ismail (10.1016/j.bone.2021.115872_bb0055) 2019; 13 Julliand (10.1016/j.bone.2021.115872_bb0285) 2012; 158A Simmons (10.1016/j.bone.2021.115872_bb0325) 2014; 100 Yamada (10.1016/j.bone.2021.115872_bb0210) 1981; 54 10.1016/j.bone.2021.115872_bb0385 Mukherjee (10.1016/j.bone.2021.115872_bb0215) 2014; 14 Tenconi (10.1016/j.bone.2021.115872_bb0300) 2017; 173 Merker (10.1016/j.bone.2021.115872_bb0345) 2018; 176 Nelson (10.1016/j.bone.2021.115872_bb0595) 1988; 48 Sanders (10.1016/j.bone.2021.115872_bb0375) 2019; 21 del Pino (10.1016/j.bone.2021.115872_bb0675) 2019; 179 10.1016/j.bone.2021.115872_bb0380 Brouwer (10.1016/j.bone.2021.115872_bb0560) 2012; 22 Mohomed (10.1016/j.bone.2021.115872_bb0145) 1998; 78 Fredwall (10.1016/j.bone.2021.115872_bb0405) 2020; 15 Wynne-Davies (10.1016/j.bone.2021.115872_bb0670) 1981; 63b Matsushita (10.1016/j.bone.2021.115872_bb0135) 2019; 104 Brinkmann (10.1016/j.bone.2021.115872_bb0250) 1993; 47 QED Therapeutics Inc (10.1016/j.bone.2021.115872_bb0455) Hoover-Fong (10.1016/j.bone.2021.115872_bb0510) 2020; 145 Bailey (10.1016/j.bone.2021.115872_bb0280) 1970; 52 Hecht (10.1016/j.bone.2021.115872_bb0320) 1987; 41 Morgan (10.1016/j.bone.2021.115872_bb0605) 1980; 52 Merker (10.1016/j.bone.2021.115872_bb0350) 2018; 176 (10.1016/j.bone.2021.115872_bb0545) 1995; 95 del Pino (10.1016/j.bone.2021.115872_bb0685) 2018; 176 Sims (10.1016/j.bone.2021.115872_bb0485) 2018; 9 Kim (10.1016/j.bone.2021.115872_bb0655) 2011; 469 Nadel (10.1016/j.bone.2021.115872_bb0205) 2018; 23 Trotter (10.1016/j.bone.2021.115872_bb0225) 2005; 116 Wong-Baker FACES Foundation (10.1016/j.bone.2021.115872_bb0745) Waters (10.1016/j.bone.2021.115872_bb0290) 1993; 69 Mahomed (10.1016/j.bone.2021.115872_bb0465) 1998; 78 Dougherty (10.1016/j.bone.2021.115872_bb0530) 2018 Lutter (10.1016/j.bone.2021.115872_bb0615) 1977; 59 Hoover-Fong (10.1016/j.bone.2021.115872_bb0040) 2017; 173 Savarirayan (10.1016/j.bone.2021.115872_bb0095) 2019; 381 Zaffanello (10.1016/j.bone.2021.115872_bb0630) 2017; 13 Wigg (10.1016/j.bone.2021.115872_bb0640) 2016; 170 Fowler (10.1016/j.bone.2021.115872_bb0050) 1997; 18 Buratti (10.1016/j.bone.2021.115872_bb0680) 2020; 182 Beaudreuil (10.1016/j.bone.2021.115872_bb0600) 2018; 61 Steinbok (10.1016/j.bone.2021.115872_bb0230) 1989; 71 Madsen (10.1016/j.bone.2021.115872_bb0410) 2019; 179 Sciubba (10.1016/j.bone.2021.115872_bb0220) 2007; 106 Shelmerdine (10.1016/j.bone.2021.115872_bb0045) 2016; 170 Collins (10.1016/j.bone.2021.115872_bb0240) 2007; 133 Fredwall (10.1016/j.bone.2021.115872_bb0115) 2020; 97 Wynn (10.1016/j.bone.2021.115872_bb0330) 2007; 143A Horton (10.1016/j.bone.2021.115872_bb0060) 1978; 93 Berkowitz (10.1016/j.bone.2021.115872_bb0235) 1991; 70 Zaffanello (10.1016/j.bone.2021.115872_bb0635) 2018; 27 Witt (10.1016/j.bone.2021.115872_bb0490) 2017; 15 Rekate (10.1016/j.bone.2021.115872_bb0570) 2019; 35 Shiang (10.1016/j.bone.2021.115872_bb0010) 1994; 78 Komla-Ebri (10.1016/j.bone.2021.115872_bb0110) 2016; 126 Horton (10.1016/j.bone.2021.115872_bb0035) 2007; 370 Dhiman (10.1016/j.bone.2021.115872_bb0140) 2017; 26 Okenfuss (10.1016/j.bone.2021.115872_bb0340) 2020; 182 Jeong (10.1016/j.bone.2021.115872_bb0275) 2006; 88 Hunter (10.1016/j.bone.2021.115872_bb0070) 1996; 62 Hashmi (10.1016/j.bone.2021.115872_bb0335) 2018; 176 Tachibana (10.1016/j.bone.2021.115872_bb0660) 1997; 60 Ireland (10.1016/j.bone.2021.115872_bb0120) 2011; 53 Sommer (10.1016/j.bone.2021.115872_bb0740) 2017; 39 Owen (10.1016/j.bone.2021.115872_bb0190) 1990; 69 Garcia (10.1016/j.bone.2021.115872_bb0100) 2013; 5 Murdoch (10.1016/j.bone.2021.115872_bb0665) 1970; 33 Alade (10.1016/j.bone.2021.115872_bb0125) 2013; 84 Siebens (10.1016/j.bone.2021.115872_bb0585) 1978; 142 Sisk (10.1016/j.bone.2021.115872_bb0315) 1999; 120 King (10.1016/j.bone.2021.115872_bb0580) 2009; 4 Rohenkohl (10.1016/j.bone.2021.115872_bb0720) 2015; 43 10.1016/j.bone.2021.115872_bb0590 Hecht (10.1016/j.bone.2021.115872_bb0500) 2014; 119 Kitoh (10.1016/j.bone.2021.115872_bb0090) 2002; 84 Johansen (10.1016/j.bone.2021.115872_bb0725) 2007; 2 Ain (10.1016/j.bone.2021.115872_bb0160) 2010; 13 Wright (10.1016/j.bone.2021.115872_bb0085) 2012; 97 Yang (10.1016/j.bone.2021.115872_bb0200) 1977; 68 Hoover-Fong (10.1016/j.bone.2021.115872_bb0520) 2018 Stoll (10.1016/j.bone.2021.115872_bb0025) 1989; 35 Mogayzel (10.1016/j.bone.2021.115872_bb0295) 1998; 132 Reynolds (10.1016/j.bone.2021.115872_bb0175) 2001; 101 Breinholt (10.1016/j.bone.2021.115872_bb0105) 2019; 370 Tofts (10.1016/j.bone.2021.115872_bb0355) 2017; 173 Hecht (10.1016/j.bone.2021.115872_bb0195) 1989; 32 Bloemeke (10.1016/j.bone.2021.115872_bb0735) 2019; 41 World Health Organization (10.1016/j.bone.2021.115872_bb0460) Gollust (10.1016/j.bone.2021.115872_bb0150) 2003; 120A Tunkel (10.1016/j.bone.2021.115872_bb0245) 2012; 158A Kopits (10.1016/j.bone.2021.115872_bb0650) 1980; 146 Hoover-Fong (10.1016/j.bone.2021.115872_bb0710) 2020; 182 Bloemeke (10.1016/j.bone.2021.115872_bb0715) 2019; 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| References_xml | – volume: 132 start-page: 667 year: 1998 end-page: 671 ident: bb0295 article-title: Sleep-disordered breathing in children with achondroplasia publication-title: J Paediatr contributor: fullname: Marcus – ident: bb0425 article-title: Lifetime Impact Study for Achondroplasia (LISA) contributor: fullname: BioMarin Pharmaceutical – volume: 97 start-page: 129 year: 2012 end-page: 134 ident: bb0085 article-title: Clinical management of achondroplasia publication-title: Arch. Dis. Child. contributor: fullname: Irving – volume: 37 start-page: 126 year: 1999 end-page: 139 ident: bb0730 article-title: The PedsQL: measurement model for the pediatric quality of life inventory publication-title: Med. Care contributor: fullname: Rode – volume: 155 start-page: 510 year: 2009 end-page: 515 ident: bb0505 article-title: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy publication-title: J. Pediatr. contributor: fullname: N – volume: 63b start-page: 508 year: 1981 end-page: 515 ident: bb0670 article-title: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis publication-title: J. Bone Joint Surg. Br. contributor: fullname: Gormley – volume: 2 start-page: 10 year: 2007 ident: bb0725 article-title: Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis) publication-title: Orphanet J. Rare Dis. contributor: fullname: Hagen – volume: 69 start-page: 191 year: 1993 end-page: 196 ident: bb0290 article-title: Breathing abnormalities in sleep in achondroplasia publication-title: Arch. Dis. Child. contributor: fullname: Sullivan – volume: 84 start-page: 680 year: 2002 end-page: 683 ident: bb0090 article-title: Deformities of the elbow in achondroplasia publication-title: J. Bone Joint Surg. Br. contributor: fullname: Takamine – volume: 95 start-page: 443 year: 1995 end-page: 451 ident: bb0545 publication-title: Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics – volume: 21 start-page: 459 year: 2019 end-page: 463 ident: bb0375 article-title: Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? publication-title: Genet. Med. contributor: fullname: Charrow – volume: 13 start-page: 8 year: 2017 end-page: 14 ident: bb0630 article-title: Sleep disordered breathing in children with achondroplasia publication-title: World J. Pediatr. contributor: fullname: Antoniazzi – year: 2020 ident: bb0400 article-title: Cardiovascular risk factors and body composition in adults with achondroplasia publication-title: Genet. Med. contributor: fullname: Tonstad – volume: 28 start-page: 1457 year: 2019 end-page: 1464 ident: bb0470 article-title: Prevalence of mental health conditions and pain in adults with skeletal dysplasia publication-title: Qual. Life Res. contributor: fullname: Bober – volume: 71 start-page: 343 year: 2019 end-page: 348 ident: bb0255 article-title: Cognitive phenotype and language skills in children with achondroplasia publication-title: Minerva Pediatr. contributor: fullname: Terribili – volume: 35 start-page: 1295 year: 2019 end-page: 1301 ident: bb0570 article-title: Pathogenesis of hydrocephalus in achondroplastic dwarfs: a review and presentation of a case followed for 22 years publication-title: Childs Nerv. Syst. contributor: fullname: Rekate – volume: 41 start-page: 1815 year: 2019 end-page: 1825 ident: bb0735 article-title: Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the international classification of functioning disability and health: the Achondroplasia Personal Life Experience Scale (APLES) publication-title: Disabil. Rehabil. contributor: fullname: Quitmann – volume: 4 start-page: 297 year: 2009 end-page: 306 ident: bb0580 article-title: Neurosurgical implications of achondroplasia publication-title: J. Neurosurg. Pediatr. contributor: fullname: Rutka – volume: 22 start-page: 2264 year: 2012 end-page: 2272 ident: bb0560 article-title: Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance publication-title: Eur. Radiol. contributor: fullname: Vleggeert-Lankamp – volume: 15 start-page: 53 year: 2017 end-page: 60 ident: bb0645 article-title: Current care and investigational therapies in achondroplasia publication-title: Current Osteoporosis Reports contributor: fullname: Gouze – volume: 5 year: 2013 ident: bb0100 article-title: Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice publication-title: Sci. Transl. Med. contributor: fullname: Gouze – volume: 158A start-page: 1551 year: 2012 end-page: 1555 ident: bb0245 article-title: Hearing loss in skeletal dysplasia patients publication-title: Am. J. Med. Genet. A contributor: fullname: Hoover-Fong – volume: 43 start-page: 433 year: 2015 end-page: 441 ident: bb0720 article-title: Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life? publication-title: Z. Kinder. Jugendpsychiatr. Psychother. contributor: fullname: Quitmann – volume: 53 start-page: 944 year: 2011 end-page: 950 ident: bb0120 article-title: Functional performance in young Australian children with achondroplasia publication-title: Dev. Med. Child Neurol. contributor: fullname: Johnston – volume: 170a start-page: 32 year: 2016 end-page: 41 ident: bb0535 article-title: Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? publication-title: Am. J. Med. Genet. A contributor: fullname: Bompadre – volume: 23 start-page: 328 year: 1986 end-page: 332 ident: bb0020 article-title: The birth prevalence rates for the skeletal dysplasias publication-title: J. Med. Genet. contributor: fullname: Barbosa-Neto – volume: 120 start-page: 248 year: 1999 end-page: 254 ident: bb0315 article-title: Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations publication-title: Otolaryngol. Head Neck Surg. contributor: fullname: Pauli – volume: 80 start-page: 45 year: 2018 end-page: 46 ident: bb0370 article-title: Upper limb function in achondroplasia and its relationship with upper limb musculoskeletal impairments publication-title: Dev. Med. Child Neurol. contributor: fullname: Johnston – volume: 88 start-page: 364 year: 2008 end-page: 371 ident: bb0185 article-title: Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height publication-title: Am. J. Clin. Nutr. contributor: fullname: Scott – volume: 88 start-page: 1192 year: 2006 end-page: 1196 ident: bb0275 article-title: MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal publication-title: J. Bone Joint Surg. Br. contributor: fullname: Hong – volume: 15 start-page: 979 year: 2014 end-page: 984 ident: bb0475 article-title: Prevalence of persistent pain in the U.S. adult population: new data from the 2010 national health interview survey publication-title: J. Pain contributor: fullname: McPherson – volume: 97 start-page: 179 year: 2020 end-page: 197 ident: bb0115 article-title: Current knowledge of medical complications in adults with achondroplasia: a scoping review publication-title: Clin. Genet. contributor: fullname: Lidal – volume: 35 start-page: 88 year: 1989 end-page: 92 ident: bb0025 article-title: Birth prevalence rates of skeletal dysplasias publication-title: Clin. Genet. contributor: fullname: Alembik – volume: 393 start-page: 664 year: 2019 end-page: 677 ident: bb0555 article-title: Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS): an international, multicentre, randomised, controlled equivalence trial publication-title: Lancet contributor: fullname: Davidson – volume: 170 start-page: 2882 year: 2016 end-page: 2888 ident: bb0640 article-title: The neuropsychological function of children with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Porter – volume: 71 start-page: 42 year: 1989 end-page: 48 ident: bb0230 article-title: Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension publication-title: J. Neurosurg. contributor: fullname: Flodmark – volume: 112 start-page: 166 year: 1988 end-page: 167 ident: bb0625 article-title: Kyphosis in achondroplasia: probably preventable publication-title: J. Pediatr. contributor: fullname: Hall – volume: 15 start-page: 109 year: 2017 end-page: 118 ident: bb0490 article-title: Understanding, assessing and improving health-related quality of life of young people with achondroplasia- a collaboration between a patient organization and academic medicine publication-title: Pediatr. Endocrinol. Rev. contributor: fullname: Quitmann – year: 2007 ident: bb0460 article-title: International classification of functioning, disability and health: children and youth version: ICF-CY contributor: fullname: World Health Organization – year: 2018 ident: bb0520 article-title: Achondroplasia Natural History: A Multi-Center Cohort Study, Poster Presented at the 68th Annual Meeting of the American Society of Human Genetics contributor: fullname: Alade – volume: 26 start-page: 1337 year: 2017 end-page: 1348 ident: bb0140 article-title: Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias publication-title: Qual. Life Res. contributor: fullname: Haider – volume: 78 start-page: 30 year: 1998 end-page: 35 ident: bb0465 article-title: Functional health status of adults with achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Goldberg – volume: 69 start-page: 56 year: 1990 end-page: 67 ident: bb0190 article-title: Resting metabolic rate and body composition of achondroplastic dwarfs publication-title: Medicine (Baltimore) contributor: fullname: Boden – volume: 469 start-page: 69 year: 2011 end-page: 75 ident: bb0655 article-title: Technical challenges of total knee arthroplasty in skeletal dysplasia publication-title: Clin. Orthop. Relat. Res. contributor: fullname: Nakano – volume: 15 start-page: 109 year: 2017 end-page: 118 ident: bb0130 article-title: Understanding, assessing and improving health-related quality of life of young people with achondroplasia- a collaboration between a patient organization and academic medicine publication-title: Pediatr. Endocrinol. Rev. contributor: fullname: Quitmann – volume: 39 start-page: 2499 year: 2017 end-page: 2503 ident: bb0740 article-title: An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia – development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES) publication-title: Disabil. Rehabil. contributor: fullname: Quitmann – volume: 23 start-page: 374 year: 2018 end-page: 380 ident: bb0205 article-title: Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis publication-title: J. Neurosurg. Pediatr. contributor: fullname: Maher – year: 2020 ident: bb0445 article-title: Achondroplasia foramen magnum score: screening infants for stenosis publication-title: Arch. Dis. Child. contributor: fullname: Thompson – volume: 18 start-page: 143 year: 1997 end-page: 150 ident: bb0050 article-title: Biophysical bases for delayed and aberrant motor development in young children with achondroplasia publication-title: J. Dev. Behav. Pediatr. contributor: fullname: Pauli – volume: 176 start-page: 1819 year: 2018 end-page: 1829 ident: bb0350 article-title: Development of body proportions in achondroplasia: sitting height, leg length, arm span, and foot length publication-title: Am. J. Med. Genet. A contributor: fullname: Hagenas – ident: bb0745 contributor: fullname: Wong-Baker FACES Foundation – volume: 17 start-page: 726 year: 1997 end-page: 733 ident: bb0080 article-title: Prevention of fixed, angular kyphosis in achondroplasia publication-title: J. Pediatr. Orthop. contributor: fullname: Reiser – volume: 48 start-page: 305 year: 1988 end-page: 311 ident: bb0595 article-title: Kyphosis and lumbar stenosis in achondroplasia publication-title: Basic Life Sci. contributor: fullname: Nelson – volume: 60 start-page: 13 year: 2018 end-page: 14 ident: bb0365 article-title: Gross motor function in children with achondroplasia and the effect of lower limb musculoskeletal impairments publication-title: Dev. Med. Child Neurol. contributor: fullname: Johnston – volume: 93 start-page: 364 year: 1988 end-page: 369 ident: bb0075 article-title: Spirometry and chest wall dimensions in achondroplasia publication-title: Chest contributor: fullname: Murphy – volume: 13 start-page: 335 year: 2010 end-page: 340 ident: bb0160 article-title: Progression of low back and lower extremity pain in a cohort of patients with achondroplasia publication-title: J. Neurosurg. Spine contributor: fullname: Rigamonti – volume: 27 start-page: 451 year: 2018 end-page: 458 ident: bb0635 article-title: Sleep-disordered breathing in children with rare skeletal disorders: a survey of clinical records publication-title: Med. Princ. Pract. contributor: fullname: Antoniazzi – volume: 126 start-page: 1871 year: 2016 end-page: 1884 ident: bb0110 article-title: Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model publication-title: J. Clin. Invest. contributor: fullname: Legeai-Mallet – volume: 182 start-page: 2540 year: 2020 end-page: 2551 ident: bb0340 article-title: Natural history of achondroplasia: a retrospective review of longitudinal clinical data publication-title: Am. J. Med. Genet. A contributor: fullname: Avins – volume: 170 start-page: 453 year: 2011 end-page: 459 ident: bb0360 article-title: Growth references for height, weight, and head circumference for argentine children with achondroplasia publication-title: Eur. J. Pediatr. contributor: fullname: Lejarraga – volume: 31 start-page: 41 year: 2010 end-page: 47 ident: bb0170 article-title: Developmental milestones in infants and young Australasian children with achondroplasia publication-title: J. Dev. Behav. Pediatr. contributor: fullname: Townshend – volume: 100 start-page: 247 year: 2014 end-page: 249 ident: bb0325 article-title: Mortality in babies with achondroplasia: revisited publication-title: Birth Defects Res. A Clin. Mol. Teratol. contributor: fullname: Hecht – volume: 158A start-page: 1987 year: 2012 end-page: 1993 ident: bb0285 article-title: Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Fauroux – volume: 52 start-page: 463 year: 1980 end-page: 472 ident: bb0605 article-title: Spinal neurological complications of achondroplasia. Results of surgical treatment publication-title: J. Neurosurg. contributor: fullname: Young – volume: 371 start-page: 252 year: 1994 end-page: 254 ident: bb0005 article-title: Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia publication-title: Nature contributor: fullname: Munnich – volume: 56 start-page: 732 year: 1995 end-page: 744 ident: bb0515 article-title: Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia publication-title: Am. J. Hum. Genet. contributor: fullname: Reiser – volume: 73 year: 2018 ident: bb0065 article-title: Natural history of 39 patients with achondroplasia publication-title: Clinics (Sao Paulo, Brazil) contributor: fullname: Kim – volume: 127 start-page: 499 year: 2019 end-page: 502 ident: bb0540 article-title: Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019 publication-title: Bone contributor: fullname: Mohnke – volume: 54 start-page: 49 year: 1981 end-page: 57 ident: bb0210 article-title: Neurological manifestations of pediatric achondroplasia publication-title: J. Neurosurg. contributor: fullname: Kageyama – volume: 116 start-page: 771 year: 2005 end-page: 783 ident: bb0225 article-title: American Academy of Pediatrics Committee on Genetics, Health supervision for children with achondroplasia publication-title: Pediatrics contributor: fullname: Hall – volume: 370 start-page: 162 year: 2007 end-page: 172 ident: bb0035 article-title: Achondroplasia publication-title: Lancet contributor: fullname: Hecht – volume: 381 start-page: 25 year: 2019 end-page: 35 ident: bb0095 article-title: C-type natriuretic peptide analogue therapy in children with achondroplasia publication-title: N. Engl. J. Med. contributor: fullname: Hoover-Fong – volume: 2 start-page: 25 year: 2017 end-page: 32 ident: bb0575 article-title: Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia publication-title: J Rare Dis Res Treat contributor: fullname: Haagerup – volume: 13 year: 2018 ident: bb0705 article-title: Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia publication-title: PLoS One contributor: fullname: Gouze – volume: 68 start-page: 150 year: 2019 end-page: 154 ident: bb0480 article-title: A quantitative description of self-selected walking in adults with achondroplasia using the gait profile score publication-title: Gait Posture contributor: fullname: Morse – volume: 370 start-page: 459 year: 2019 end-page: 471 ident: bb0105 article-title: TransCon CNP, a sustained-release C-type natriuretic peptide prodrug, a potentially safe and efficacious new therapeutic modality for the treatment of comorbidities associated with FGFR3-related skeletal dysplasias publication-title: J. Pharmacol. Exp. Ther. contributor: fullname: Hersel – volume: 84 start-page: 237 year: 2013 end-page: 243 ident: bb0125 article-title: Cross-sectional assessment of pain and physical function in skeletal dysplasia patients publication-title: Clin. Genet. contributor: fullname: Hoover-Fong – volume: 145 year: 2020 ident: bb0510 article-title: Committee on Genetics, health supervision for people with achondroplasia publication-title: Pediatrics contributor: fullname: Jones – volume: 48 start-page: 3 year: 1988 end-page: 9 ident: bb0610 article-title: The natural history of achondroplasia publication-title: Basic Life Sci. contributor: fullname: Hall – volume: 54 start-page: 532 year: 2012 end-page: 537 ident: bb0165 article-title: Development in children with achondroplasia: a prospective clinical cohort study publication-title: Dev. Med. Child Neurol. contributor: fullname: Johnston – ident: bb0440 article-title: Observational study investigating clinical & anthropometric characteristics of children with achondroplasia contributor: fullname: Pfizer – volume: 170a start-page: 42 year: 2016 end-page: 51 ident: bb0550 article-title: Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy publication-title: Am. J. Med. Genet. A contributor: fullname: Savarirayan – ident: bb0420 article-title: Lifetime Impact of Achondroplasia Study in Europe-LIAISE (LIAISE) contributor: fullname: BioMarin Pharmaceutical – volume: 68 start-page: 68 year: 1977 end-page: 72 ident: bb0200 article-title: Upper cervical myelopathy in achondroplasia publication-title: Am. J. Clin. Pathol. contributor: fullname: Bernstein – year: 2018 ident: bb0530 article-title: Identification of characteristic neurological complications in infants with achondroplasia by routine MRI screening publication-title: Poster presented at the 57th Annual European Society for Paediatric Endocrinology Meeting, Athen, Greece contributor: fullname: Cheung – volume: 101 start-page: 40 year: 2001 end-page: 45 ident: bb0175 article-title: Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Pauli – volume: 173 start-page: 868 year: 2017 end-page: 878 ident: bb0300 article-title: Sleep-disordered breathing and its management in children with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Fauroux – ident: bb0690 article-title: Achondroplasia natural history multicenter clinical study contributor: fullname: Hoover-Fong – volume: 7 start-page: 117 year: 2014 end-page: 125 ident: bb0030 article-title: Optimal management of complications associated with achondroplasia publication-title: Appl. Clin. Genet. contributor: fullname: Savarirayan – volume: 32 start-page: 528 year: 1989 end-page: 535 ident: bb0195 article-title: Growth of foramen magnum in achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Chakraborty – volume: 59 start-page: 87 year: 1977 end-page: 92 ident: bb0615 article-title: Neurological symptoms in achondroplastic dwarfs–surgical treatment publication-title: J. Bone Joint Surg. Am. contributor: fullname: Langer – volume: 146 start-page: 206 year: 1980 end-page: 209 ident: bb0650 article-title: Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia publication-title: Johns Hopkins Med. J. contributor: fullname: Kopits – volume: 28 start-page: 2553 year: 2019 end-page: 2563 ident: bb0715 article-title: Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia publication-title: Qual. Life Res. contributor: fullname: Quitmann – ident: bb0435 article-title: A multi-center, longitudinal, observational study of children with achondroplasia contributor: fullname: Ascendis Pharma A/S – volume: 48 start-page: 241 year: 1988 end-page: 255 ident: bb0260 article-title: Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children publication-title: Basic Life Sci. contributor: fullname: Kopits – volume: 182 start-page: 146 year: 2020 end-page: 149 ident: bb0680 article-title: Weight gain velocity in infants with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Pauli – volume: 133 start-page: 237 year: 2007 end-page: 244 ident: bb0240 article-title: Otolaryngologic manifestations of achondroplasia publication-title: Arch. Otolaryngol. Head Neck Surg. contributor: fullname: Choi – volume: 35 start-page: 705 year: 1998 end-page: 712 ident: bb0155 article-title: Medical complications of achondroplasia: a multicentre patient review publication-title: J. Med. Genet. contributor: fullname: Scott – volume: 104 start-page: 364 year: 2019 end-page: 372 ident: bb0135 article-title: Physical, mental, and social problems of adolescent and adult patients with achondroplasia publication-title: Calcif. Tissue Int. contributor: fullname: Ishiguro – volume: 176 start-page: 896 year: 2018 end-page: 906 ident: bb0685 article-title: Leg length, sitting height, and body proportions references for achondroplasia: new tools for monitoring growth publication-title: Am. J. Med. Genet. A contributor: fullname: Fano – volume: 16 start-page: 140 year: 1979 end-page: 146 ident: bb0015 article-title: Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine publication-title: J. Med. Genet. contributor: fullname: Rosshandler – volume: 173 start-page: 2189 year: 2017 end-page: 2200 ident: bb0355 article-title: Growth charts for Australian children with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Burton – volume: 16 year: 2021 ident: bb0495 article-title: Development of the screening tool for everyday mobility and symptoms (STEMS) for skeletal dysplasia publication-title: Orphanet J. Rare Dis. contributor: fullname: Pacey – volume: 179 start-page: 1001 year: 2019 end-page: 1009 ident: bb0675 article-title: Height growth velocity during infancy and childhood in achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Adamo – volume: 176 start-page: 1723 year: 2018 end-page: 1734 ident: bb0345 article-title: Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort contributor: fullname: Makitie – volume: 62 start-page: 91 year: 1996 end-page: 97 ident: bb0070 article-title: Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems publication-title: Am. J. Med. Genet. contributor: fullname: Scott – volume: 70 start-page: 305 year: 1991 end-page: 308 ident: bb0235 article-title: Middle ear disease in childhood achondroplasia publication-title: Ear. Nose. Throat J. contributor: fullname: Rosenbaum – ident: bb0430 article-title: A multicenter, multinational clinical assessment study for pediatric patients with achondroplasia contributor: fullname: BioMarin Pharmaceutical – volume: 33 start-page: 227 year: 1970 end-page: 244 ident: bb0665 article-title: Achondroplasia–a genetic and statistical survey publication-title: Ann. Hum. Genet. contributor: fullname: McKusick – year: 2020 ident: bb0415 article-title: Physical Fitness and Activity Level in Norwegian Adults With Achondroplasia contributor: fullname: Johansen – volume: 47 start-page: 800 year: 1993 end-page: 804 ident: bb0250 article-title: Cognitive skills in achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Spranger – volume: 9 start-page: 410 year: 2018 ident: bb0485 article-title: The oxygen consumption and metabolic cost of walking and running in adults with achondroplasia publication-title: Front. Physiol. contributor: fullname: Morse – volume: 31 start-page: 421 year: 2018 end-page: 428 ident: bb0695 article-title: Growth velocity and biological variables during puberty in achondroplasia publication-title: J. Pediatr. Endocrinol. Metab. contributor: fullname: Adamo – volume: 466 start-page: 907 year: 2008 end-page: 913 ident: bb0270 article-title: Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis publication-title: Clin. Orthop. Relat. Res. contributor: fullname: Yang – volume: 36 start-page: 886 year: 2011 end-page: 892 ident: bb0620 article-title: Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function publication-title: Spine contributor: fullname: Ain – volume: 120A start-page: 447 year: 2003 end-page: 458 ident: bb0150 article-title: Living with achondroplasia in an average-sized world: an assessment of quality of life publication-title: Am. J. Med. Genet. A contributor: fullname: Biesecker – volume: 143A start-page: 2502 year: 2007 end-page: 2511 ident: bb0330 article-title: Mortality in achondroplasia study: a 42-year follow-up publication-title: Am. J. Med. Genet. A contributor: fullname: Hecht – volume: 52 start-page: 1285 year: 1970 end-page: 1301 ident: bb0280 article-title: Orthopaedic aspects of achondroplasia publication-title: J. Bone Joint Surg. Am. contributor: fullname: Bailey – volume: 173 start-page: 1226 year: 2017 end-page: 1230 ident: bb0040 article-title: A height-for-age growth reference for children with achondroplasia: expanded applications and comparison with original reference data publication-title: Am. J. Med. Genet. A contributor: fullname: Scott – volume: 176 start-page: 2359 year: 2018 end-page: 2364 ident: bb0335 article-title: Multicenter study of mortality in achondroplasia contributor: fullname: Hoover-Fong – volume: 41 start-page: 454 year: 1987 end-page: 464 ident: bb0320 article-title: Mortality in achondroplasia publication-title: Am. J. Hum. Genet. contributor: fullname: Annegers – volume: 15 start-page: 123 year: 2020 ident: bb0405 article-title: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study publication-title: Orphanet J. Rare Dis. contributor: fullname: Månum – volume: 15 start-page: 755 year: 2011 end-page: 761 ident: bb0310 article-title: Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes publication-title: Sleep Breath. contributor: fullname: Waters – volume: 80 start-page: 75 year: 1971 end-page: 78 ident: bb0265 article-title: Elbow and other upper limb deformities in achondroplasia publication-title: Clin. Orthop. Relat. Res. contributor: fullname: Bailey – ident: bb0395 article-title: The Norwegian Adult Achondroplasia Study contributor: fullname: Sunnaas Rehabilitation Hospital – volume: 179 start-page: 1745 year: 2019 end-page: 1755 ident: bb0410 article-title: Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia publication-title: Am. J. Med. Genet. A contributor: fullname: Slettahjell – volume: 60 start-page: 1363 year: 1997 end-page: 1369 ident: bb0660 article-title: A study on the height of children with achondroplasia based on a nationwide survey publication-title: J Pediatr Pract contributor: fullname: Matsuda – volume: 106 start-page: 372 year: 2007 end-page: 378 ident: bb0220 article-title: Spinal stenosis surgery in pediatric patients with achondroplasia publication-title: J. Neurosurg. contributor: fullname: Jallo – volume: 88 start-page: 145 year: 1999 end-page: 153 ident: bb0565 article-title: Neuroanatomic and neuropsychological outcome in school age children with achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Fletcher – volume: 119 start-page: 551 year: 2014 end-page: 563 ident: bb0500 article-title: Neurologic manifestations of achondroplasia publication-title: Handb. Clin. Neurol. contributor: fullname: Butler – volume: 142 start-page: 205 year: 1978 end-page: 210 ident: bb0585 article-title: Curves of the achondroplastic spine: a new hypothesis publication-title: Johns Hopkins Med. J. contributor: fullname: Kirby – volume: 78 start-page: 335 year: 1994 end-page: 342 ident: bb0010 article-title: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia publication-title: Cell contributor: fullname: Wasmuth – volume: 67 start-page: 74 year: 1986 end-page: 78 ident: bb0700 article-title: Obstetric and gynecologic problems in women with chondrodystrophies publication-title: Obstet. Gynecol. contributor: fullname: Hall – start-page: 1 year: 2020 end-page: 4 ident: bb0450 article-title: Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia publication-title: Br. J. Neurosurg. contributor: fullname: Cheung – volume: 31 start-page: 597 year: 1988 end-page: 602 ident: bb0180 article-title: Obesity in achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Horton – volume: 14 start-page: 238 year: 2014 end-page: 244 ident: bb0215 article-title: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series publication-title: J. Neurosurg. Pediatr. contributor: fullname: Danielpour – volume: 170 start-page: 2039 year: 2016 end-page: 2043 ident: bb0045 article-title: Achondroplasia: really rhizomelic? publication-title: Am. J. Med. Genet. A contributor: fullname: Calder – volume: 93 start-page: 435 year: 1978 end-page: 438 ident: bb0060 article-title: Standard growth curves for achondroplasia publication-title: J Paediatr contributor: fullname: Hall – volume: 78 start-page: 30 year: 1998 end-page: 35 ident: bb0145 article-title: Functional health status of adults with achondroplasia publication-title: Am. J. Med. Genet. contributor: fullname: Goldberg – volume: 182 start-page: 150 year: 2020 end-page: 161 ident: bb0710 article-title: Blood pressure in adults with short stature skeletal dysplasias publication-title: Am. J. Med. Genet. A contributor: fullname: McGready – volume: 13 start-page: 1 year: 2019 end-page: 5 ident: bb0055 article-title: Growth charts for Egyptian children with achondroplasia publication-title: J. Clin. Diagn. Res. contributor: fullname: Zaki – ident: bb0455 article-title: Prospective clinical assessment study in children with achondroplasia (ACH) contributor: fullname: QED Therapeutics Inc – volume: 61 year: 2018 ident: bb0600 article-title: Lumbar spinal stenosis in adult achondroplasia. An analysis of intervertebral disk alterations publication-title: Ann. Phys. Rehabil. Med. contributor: fullname: Yelnik – volume: 54 start-page: 532 issue: 6 year: 2012 ident: 10.1016/j.bone.2021.115872_bb0165 article-title: Development in children with achondroplasia: a prospective clinical cohort study publication-title: Dev. Med. Child Neurol. doi: 10.1111/j.1469-8749.2012.04234.x contributor: fullname: Ireland – volume: 39 start-page: 2499 issue: 24 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0740 article-title: An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia – development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES) publication-title: Disabil. Rehabil. doi: 10.1080/09638288.2016.1226969 contributor: fullname: Sommer – volume: 69 start-page: 56 issue: 1 year: 1990 ident: 10.1016/j.bone.2021.115872_bb0190 article-title: Resting metabolic rate and body composition of achondroplastic dwarfs publication-title: Medicine (Baltimore) doi: 10.1097/00005792-199001000-00005 contributor: fullname: Owen – ident: 10.1016/j.bone.2021.115872_bb0455 contributor: fullname: QED Therapeutics Inc – volume: 35 start-page: 88 issue: 2 year: 1989 ident: 10.1016/j.bone.2021.115872_bb0025 article-title: Birth prevalence rates of skeletal dysplasias publication-title: Clin. Genet. doi: 10.1111/j.1399-0004.1989.tb02912.x contributor: fullname: Stoll – volume: 73 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0065 article-title: Natural history of 39 patients with achondroplasia publication-title: Clinics (Sao Paulo, Brazil) doi: 10.6061/clinics/2018/e324 contributor: fullname: Ceroni – volume: 15 start-page: 109 issue: Suppl. 1 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0130 article-title: Understanding, assessing and improving health-related quality of life of young people with achondroplasia- a collaboration between a patient organization and academic medicine publication-title: Pediatr. Endocrinol. Rev. contributor: fullname: Witt – volume: 173 start-page: 1226 issue: 5 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0040 article-title: A height-for-age growth reference for children with achondroplasia: expanded applications and comparison with original reference data publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38150 contributor: fullname: Hoover-Fong – volume: 176 start-page: 896 issue: 4 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0685 article-title: Leg length, sitting height, and body proportions references for achondroplasia: new tools for monitoring growth publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38633 contributor: fullname: del Pino – volume: 62 start-page: 91 issue: 1 year: 1996 ident: 10.1016/j.bone.2021.115872_bb0070 article-title: Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(19960301)62:1<91::AID-AJMG18>3.0.CO;2-Q contributor: fullname: Hunter – year: 2020 ident: 10.1016/j.bone.2021.115872_bb0400 article-title: Cardiovascular risk factors and body composition in adults with achondroplasia publication-title: Genet. Med. contributor: fullname: Fredwall – volume: 106 start-page: 372 issue: 5 Suppl year: 2007 ident: 10.1016/j.bone.2021.115872_bb0220 article-title: Spinal stenosis surgery in pediatric patients with achondroplasia publication-title: J. Neurosurg. contributor: fullname: Sciubba – volume: 15 start-page: 755 issue: 4 year: 2011 ident: 10.1016/j.bone.2021.115872_bb0310 article-title: Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes publication-title: Sleep Breath. doi: 10.1007/s11325-010-0432-6 contributor: fullname: Afsharpaiman – volume: 71 start-page: 343 issue: 4 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0255 article-title: Cognitive phenotype and language skills in children with achondroplasia publication-title: Minerva Pediatr. doi: 10.23736/S0026-4946.16.04401-7 contributor: fullname: Galasso – volume: 78 start-page: 30 issue: 1 year: 1998 ident: 10.1016/j.bone.2021.115872_bb0145 article-title: Functional health status of adults with achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P contributor: fullname: Mohomed – volume: 88 start-page: 364 issue: 2 year: 2008 ident: 10.1016/j.bone.2021.115872_bb0185 article-title: Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height publication-title: Am. J. Clin. Nutr. doi: 10.1093/ajcn/88.2.364 contributor: fullname: Hoover-Fong – volume: 5 issue: 203 year: 2013 ident: 10.1016/j.bone.2021.115872_bb0100 article-title: Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice publication-title: Sci. Transl. Med. doi: 10.1126/scitranslmed.3006247 contributor: fullname: Garcia – volume: 143A start-page: 2502 issue: 21 year: 2007 ident: 10.1016/j.bone.2021.115872_bb0330 article-title: Mortality in achondroplasia study: a 42-year follow-up publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.31919 contributor: fullname: Wynn – volume: 101 start-page: 40 issue: 1 year: 2001 ident: 10.1016/j.bone.2021.115872_bb0175 article-title: Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1307 contributor: fullname: Reynolds – volume: 60 start-page: 13 issue: Suppl. 1 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0365 article-title: Gross motor function in children with achondroplasia and the effect of lower limb musculoskeletal impairments publication-title: Dev. Med. Child Neurol. contributor: fullname: Kiemann – volume: 469 start-page: 69 issue: 1 year: 2011 ident: 10.1016/j.bone.2021.115872_bb0655 article-title: Technical challenges of total knee arthroplasty in skeletal dysplasia publication-title: Clin. Orthop. Relat. Res. doi: 10.1007/s11999-010-1516-0 contributor: fullname: Kim – volume: 14 start-page: 238 issue: 3 year: 2014 ident: 10.1016/j.bone.2021.115872_bb0215 article-title: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series publication-title: J. Neurosurg. Pediatr. doi: 10.3171/2014.5.PEDS12614 contributor: fullname: Mukherjee – volume: 393 start-page: 664 issue: 10172 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0555 article-title: Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS): an international, multicentre, randomised, controlled equivalence trial publication-title: Lancet doi: 10.1016/S0140-6736(18)32485-1 contributor: fullname: McCann – volume: 84 start-page: 680 issue: 5 year: 2002 ident: 10.1016/j.bone.2021.115872_bb0090 article-title: Deformities of the elbow in achondroplasia publication-title: J. Bone Joint Surg. Br. doi: 10.1302/0301-620X.84B5.0840680 contributor: fullname: Kitoh – volume: 47 start-page: 800 issue: 5 year: 1993 ident: 10.1016/j.bone.2021.115872_bb0250 article-title: Cognitive skills in achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1320470540 contributor: fullname: Brinkmann – volume: 132 start-page: 667 issue: 4 year: 1998 ident: 10.1016/j.bone.2021.115872_bb0295 article-title: Sleep-disordered breathing in children with achondroplasia publication-title: J Paediatr doi: 10.1016/S0022-3476(98)70358-0 contributor: fullname: Mogayzel – ident: 10.1016/j.bone.2021.115872_bb0390 – volume: 23 start-page: 328 issue: 4 year: 1986 ident: 10.1016/j.bone.2021.115872_bb0020 article-title: The birth prevalence rates for the skeletal dysplasias publication-title: J. Med. Genet. doi: 10.1136/jmg.23.4.328 contributor: fullname: Orioli – volume: 80 start-page: 75 year: 1971 ident: 10.1016/j.bone.2021.115872_bb0265 article-title: Elbow and other upper limb deformities in achondroplasia publication-title: Clin. Orthop. Relat. Res. doi: 10.1097/00003086-197110000-00011 contributor: fullname: Bailey – volume: 63b start-page: 508 issue: 4 year: 1981 ident: 10.1016/j.bone.2021.115872_bb0670 article-title: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis publication-title: J. Bone Joint Surg. Br. doi: 10.1302/0301-620X.63B4.7298674 contributor: fullname: Wynne-Davies – volume: 48 start-page: 241 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0260 article-title: Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children publication-title: Basic Life Sci. contributor: fullname: Kopits – volume: 43 start-page: 433 issue: 6 year: 2015 ident: 10.1016/j.bone.2021.115872_bb0720 article-title: Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life? publication-title: Z. Kinder. Jugendpsychiatr. Psychother. doi: 10.1024/1422-4917/a000385 contributor: fullname: Rohenkohl – volume: 126 start-page: 1871 issue: 5 year: 2016 ident: 10.1016/j.bone.2021.115872_bb0110 article-title: Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model publication-title: J. Clin. Invest. doi: 10.1172/JCI83926 contributor: fullname: Komla-Ebri – volume: 100 start-page: 247 issue: 4 year: 2014 ident: 10.1016/j.bone.2021.115872_bb0325 article-title: Mortality in babies with achondroplasia: revisited publication-title: Birth Defects Res. A Clin. Mol. Teratol. doi: 10.1002/bdra.23210 contributor: fullname: Simmons – volume: 13 start-page: 8 issue: 1 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0630 article-title: Sleep disordered breathing in children with achondroplasia publication-title: World J. Pediatr. doi: 10.1007/s12519-016-0051-9 contributor: fullname: Zaffanello – ident: 10.1016/j.bone.2021.115872_bb0690 contributor: fullname: Hoover-Fong – volume: 23 start-page: 374 issue: 3 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0205 article-title: Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis publication-title: J. Neurosurg. Pediatr. doi: 10.3171/2018.9.PEDS18410 contributor: fullname: Nadel – volume: 68 start-page: 68 issue: 1 year: 1977 ident: 10.1016/j.bone.2021.115872_bb0200 article-title: Upper cervical myelopathy in achondroplasia publication-title: Am. J. Clin. Pathol. doi: 10.1093/ajcp/68.1.68 contributor: fullname: Yang – volume: 80 start-page: 45 issue: Suppl. 1 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0370 article-title: Upper limb function in achondroplasia and its relationship with upper limb musculoskeletal impairments publication-title: Dev. Med. Child Neurol. contributor: fullname: Topfer – ident: 10.1016/j.bone.2021.115872_bb0745 contributor: fullname: Wong-Baker FACES Foundation – volume: 179 start-page: 1745 issue: 9 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0410 article-title: Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61272 contributor: fullname: Madsen – volume: 95 start-page: 443 issue: 3 year: 1995 ident: 10.1016/j.bone.2021.115872_bb0545 publication-title: Pediatrics doi: 10.1542/peds.95.3.443 – volume: 370 start-page: 459 issue: 3 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0105 article-title: TransCon CNP, a sustained-release C-type natriuretic peptide prodrug, a potentially safe and efficacious new therapeutic modality for the treatment of comorbidities associated with FGFR3-related skeletal dysplasias publication-title: J. Pharmacol. Exp. Ther. doi: 10.1124/jpet.119.258251 contributor: fullname: Breinholt – volume: 26 start-page: 1337 issue: 5 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0140 article-title: Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias publication-title: Qual. Life Res. doi: 10.1007/s11136-016-1455-7 contributor: fullname: Dhiman – volume: 15 start-page: 109 issue: Suppl. 1 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0490 article-title: Understanding, assessing and improving health-related quality of life of young people with achondroplasia- a collaboration between a patient organization and academic medicine publication-title: Pediatr. Endocrinol. Rev. contributor: fullname: Witt – volume: 120A start-page: 447 issue: 4 year: 2003 ident: 10.1016/j.bone.2021.115872_bb0150 article-title: Living with achondroplasia in an average-sized world: an assessment of quality of life publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.20127 contributor: fullname: Gollust – volume: 170 start-page: 2882 issue: 11 year: 2016 ident: 10.1016/j.bone.2021.115872_bb0640 article-title: The neuropsychological function of children with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.37779 contributor: fullname: Wigg – volume: 97 start-page: 179 issue: 1 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0115 article-title: Current knowledge of medical complications in adults with achondroplasia: a scoping review publication-title: Clin. Genet. doi: 10.1111/cge.13542 contributor: fullname: Fredwall – volume: 41 start-page: 454 issue: 3 year: 1987 ident: 10.1016/j.bone.2021.115872_bb0320 article-title: Mortality in achondroplasia publication-title: Am. J. Hum. Genet. contributor: fullname: Hecht – volume: 93 start-page: 364 issue: 2 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0075 article-title: Spirometry and chest wall dimensions in achondroplasia publication-title: Chest doi: 10.1378/chest.93.2.364 contributor: fullname: Stokes – volume: 21 start-page: 459 issue: 2 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0375 article-title: Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? publication-title: Genet. Med. doi: 10.1038/s41436-018-0070-0 contributor: fullname: Sanders – volume: 67 start-page: 74 issue: 1 year: 1986 ident: 10.1016/j.bone.2021.115872_bb0700 article-title: Obstetric and gynecologic problems in women with chondrodystrophies publication-title: Obstet. Gynecol. contributor: fullname: Allanson – volume: 28 start-page: 1457 issue: 6 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0470 article-title: Prevalence of mental health conditions and pain in adults with skeletal dysplasia publication-title: Qual. Life Res. doi: 10.1007/s11136-019-02102-2 contributor: fullname: Jennings – volume: 371 start-page: 252 issue: 6494 year: 1994 ident: 10.1016/j.bone.2021.115872_bb0005 article-title: Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia publication-title: Nature doi: 10.1038/371252a0 contributor: fullname: Rousseau – volume: 70 start-page: 305 issue: 5 year: 1991 ident: 10.1016/j.bone.2021.115872_bb0235 article-title: Middle ear disease in childhood achondroplasia publication-title: Ear. Nose. Throat J. contributor: fullname: Berkowitz – ident: 10.1016/j.bone.2021.115872_bb0590 doi: 10.2106/00004623-198163090-00007 – volume: 59 start-page: 87 issue: 1 year: 1977 ident: 10.1016/j.bone.2021.115872_bb0615 article-title: Neurological symptoms in achondroplastic dwarfs–surgical treatment publication-title: J. Bone Joint Surg. Am. doi: 10.2106/00004623-197759010-00016 contributor: fullname: Lutter – volume: 13 start-page: 335 issue: 3 year: 2010 ident: 10.1016/j.bone.2021.115872_bb0160 article-title: Progression of low back and lower extremity pain in a cohort of patients with achondroplasia publication-title: J. Neurosurg. Spine doi: 10.3171/2010.3.SPINE09629 contributor: fullname: Ain – volume: 370 start-page: 162 issue: 9582 year: 2007 ident: 10.1016/j.bone.2021.115872_bb0035 article-title: Achondroplasia publication-title: Lancet doi: 10.1016/S0140-6736(07)61090-3 contributor: fullname: Horton – volume: 37 start-page: 126 issue: 2 year: 1999 ident: 10.1016/j.bone.2021.115872_bb0730 article-title: The PedsQL: measurement model for the pediatric quality of life inventory publication-title: Med. Care doi: 10.1097/00005650-199902000-00003 contributor: fullname: Varni – volume: 15 start-page: 979 issue: 10 year: 2014 ident: 10.1016/j.bone.2021.115872_bb0475 article-title: Prevalence of persistent pain in the U.S. adult population: new data from the 2010 national health interview survey publication-title: J. Pain doi: 10.1016/j.jpain.2014.05.009 contributor: fullname: Kennedy – volume: 31 start-page: 597 issue: 3 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0180 article-title: Obesity in achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1320310314 contributor: fullname: Hecht – volume: 170 start-page: 2039 issue: 8 year: 2016 ident: 10.1016/j.bone.2021.115872_bb0045 article-title: Achondroplasia: really rhizomelic? publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.37776 contributor: fullname: Shelmerdine – volume: 18 start-page: 143 issue: 3 year: 1997 ident: 10.1016/j.bone.2021.115872_bb0050 article-title: Biophysical bases for delayed and aberrant motor development in young children with achondroplasia publication-title: J. Dev. Behav. Pediatr. doi: 10.1097/00004703-199706000-00001 contributor: fullname: Fowler – ident: 10.1016/j.bone.2021.115872_bb0395 contributor: fullname: Sunnaas Rehabilitation Hospital – volume: 88 start-page: 1192 issue: 9 year: 2006 ident: 10.1016/j.bone.2021.115872_bb0275 article-title: MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal publication-title: J. Bone Joint Surg. Br. doi: 10.1302/0301-620X.88B9.17758 contributor: fullname: Jeong – ident: 10.1016/j.bone.2021.115872_bb0430 contributor: fullname: BioMarin Pharmaceutical – volume: 142 start-page: 205 issue: 6 year: 1978 ident: 10.1016/j.bone.2021.115872_bb0585 article-title: Curves of the achondroplastic spine: a new hypothesis publication-title: Johns Hopkins Med. J. contributor: fullname: Siebens – volume: 179 start-page: 1001 issue: 6 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0675 article-title: Height growth velocity during infancy and childhood in achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61120 contributor: fullname: del Pino – ident: 10.1016/j.bone.2021.115872_bb0460 contributor: fullname: World Health Organization – volume: 2 start-page: 25 issue: 4 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0575 article-title: Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia publication-title: J Rare Dis Res Treat doi: 10.29245/2572-9411/2017/4.1113 contributor: fullname: Doherty – volume: 17 start-page: 726 issue: 6 year: 1997 ident: 10.1016/j.bone.2021.115872_bb0080 article-title: Prevention of fixed, angular kyphosis in achondroplasia publication-title: J. Pediatr. Orthop. doi: 10.1097/01241398-199711000-00006 contributor: fullname: Pauli – volume: 78 start-page: 30 issue: 1 year: 1998 ident: 10.1016/j.bone.2021.115872_bb0465 article-title: Functional health status of adults with achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P contributor: fullname: Mahomed – volume: 170a start-page: 42 issue: 1 year: 2016 ident: 10.1016/j.bone.2021.115872_bb0550 article-title: Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.37394 contributor: fullname: White – year: 2020 ident: 10.1016/j.bone.2021.115872_bb0445 article-title: Achondroplasia foramen magnum score: screening infants for stenosis publication-title: Arch. Dis. Child. contributor: fullname: Cheung – volume: 4 start-page: 297 issue: 4 year: 2009 ident: 10.1016/j.bone.2021.115872_bb0580 article-title: Neurosurgical implications of achondroplasia publication-title: J. Neurosurg. Pediatr. doi: 10.3171/2009.3.PEDS08344 contributor: fullname: King – volume: 16 year: 2021 ident: 10.1016/j.bone.2021.115872_bb0495 article-title: Development of the screening tool for everyday mobility and symptoms (STEMS) for skeletal dysplasia publication-title: Orphanet J. Rare Dis. doi: 10.1186/s13023-021-01681-z contributor: fullname: Ireland – volume: 158A start-page: 1551 issue: 7 year: 2012 ident: 10.1016/j.bone.2021.115872_bb0245 article-title: Hearing loss in skeletal dysplasia patients publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.35373 contributor: fullname: Tunkel – volume: 69 start-page: 191 issue: 2 year: 1993 ident: 10.1016/j.bone.2021.115872_bb0290 article-title: Breathing abnormalities in sleep in achondroplasia publication-title: Arch. Dis. Child. doi: 10.1136/adc.69.2.191 contributor: fullname: Waters – volume: 182 start-page: 2540 issue: 11 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0340 article-title: Natural history of achondroplasia: a retrospective review of longitudinal clinical data publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61825 contributor: fullname: Okenfuss – volume: 31 start-page: 421 issue: 4 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0695 article-title: Growth velocity and biological variables during puberty in achondroplasia publication-title: J. Pediatr. Endocrinol. Metab. doi: 10.1515/jpem-2017-0471 contributor: fullname: del Pino – volume: 176 start-page: 1819 issue: 9 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0350 article-title: Development of body proportions in achondroplasia: sitting height, leg length, arm span, and foot length publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.40356 contributor: fullname: Merker – volume: 13 issue: 4 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0705 article-title: Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia publication-title: PLoS One doi: 10.1371/journal.pone.0195876 contributor: fullname: Saint-Laurent – volume: 170a start-page: 32 issue: 1 year: 2016 ident: 10.1016/j.bone.2021.115872_bb0535 article-title: Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.37385 contributor: fullname: White – volume: 61 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0600 article-title: Lumbar spinal stenosis in adult achondroplasia. An analysis of intervertebral disk alterations publication-title: Ann. Phys. Rehabil. Med. doi: 10.1016/j.rehab.2018.05.362 contributor: fullname: Beaudreuil – volume: 31 start-page: 41 issue: 1 year: 2010 ident: 10.1016/j.bone.2021.115872_bb0170 article-title: Developmental milestones in infants and young Australasian children with achondroplasia publication-title: J. Dev. Behav. Pediatr. doi: 10.1097/DBP.0b013e3181c72052 contributor: fullname: Ireland – volume: 176 start-page: 2359 issue: 11 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0335 article-title: Multicenter study of mortality in achondroplasia contributor: fullname: Hashmi – year: 2018 ident: 10.1016/j.bone.2021.115872_bb0520 contributor: fullname: Hoover-Fong – volume: 35 start-page: 1295 issue: 8 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0570 article-title: Pathogenesis of hydrocephalus in achondroplastic dwarfs: a review and presentation of a case followed for 22 years publication-title: Childs Nerv. Syst. doi: 10.1007/s00381-019-04227-8 contributor: fullname: Rekate – volume: 53 start-page: 944 issue: 10 year: 2011 ident: 10.1016/j.bone.2021.115872_bb0120 article-title: Functional performance in young Australian children with achondroplasia publication-title: Dev. Med. Child Neurol. doi: 10.1111/j.1469-8749.2011.04050.x contributor: fullname: Ireland – volume: 182 start-page: 150 issue: 1 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0710 article-title: Blood pressure in adults with short stature skeletal dysplasias publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61402 contributor: fullname: Hoover-Fong – volume: 158A start-page: 1987 issue: 8 year: 2012 ident: 10.1016/j.bone.2021.115872_bb0285 article-title: Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.35441 contributor: fullname: Julliand – volume: 381 start-page: 25 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0095 article-title: C-type natriuretic peptide analogue therapy in children with achondroplasia publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1813446 contributor: fullname: Savarirayan – volume: 13 start-page: 1 issue: 5 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0055 article-title: Growth charts for Egyptian children with achondroplasia publication-title: J. Clin. Diagn. Res. contributor: fullname: Ismail – volume: 84 start-page: 237 issue: 3 year: 2013 ident: 10.1016/j.bone.2021.115872_bb0125 article-title: Cross-sectional assessment of pain and physical function in skeletal dysplasia patients publication-title: Clin. Genet. doi: 10.1111/cge.12045 contributor: fullname: Alade – year: 2018 ident: 10.1016/j.bone.2021.115872_bb0530 article-title: Identification of characteristic neurological complications in infants with achondroplasia by routine MRI screening contributor: fullname: Dougherty – volume: 133 start-page: 237 issue: 3 year: 2007 ident: 10.1016/j.bone.2021.115872_bb0240 article-title: Otolaryngologic manifestations of achondroplasia publication-title: Arch. Otolaryngol. Head Neck Surg. doi: 10.1001/archotol.133.3.237 contributor: fullname: Collins – volume: 68 start-page: 150 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0480 article-title: A quantitative description of self-selected walking in adults with achondroplasia using the gait profile score publication-title: Gait Posture doi: 10.1016/j.gaitpost.2018.11.019 contributor: fullname: Sims – ident: 10.1016/j.bone.2021.115872_bb0380 – volume: 176 start-page: 1723 issue: 8 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0345 article-title: Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort contributor: fullname: Merker – ident: 10.1016/j.bone.2021.115872_bb0440 contributor: fullname: Pfizer – ident: 10.1016/j.bone.2021.115872_bb0525 – volume: 52 start-page: 463 issue: 4 year: 1980 ident: 10.1016/j.bone.2021.115872_bb0605 article-title: Spinal neurological complications of achondroplasia. Results of surgical treatment publication-title: J. Neurosurg. doi: 10.3171/jns.1980.52.4.0463 contributor: fullname: Morgan – volume: 2 start-page: 10 year: 2007 ident: 10.1016/j.bone.2021.115872_bb0725 article-title: Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis) publication-title: Orphanet J. Rare Dis. doi: 10.1186/1750-1172-2-10 contributor: fullname: Johansen – volume: 60 start-page: 1363 year: 1997 ident: 10.1016/j.bone.2021.115872_bb0660 article-title: A study on the height of children with achondroplasia based on a nationwide survey publication-title: J Pediatr Pract contributor: fullname: Tachibana – volume: 22 start-page: 2264 issue: 10 year: 2012 ident: 10.1016/j.bone.2021.115872_bb0560 article-title: Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance publication-title: Eur. Radiol. doi: 10.1007/s00330-012-2488-0 contributor: fullname: Brouwer – volume: 112 start-page: 166 issue: 1 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0625 article-title: Kyphosis in achondroplasia: probably preventable publication-title: J. Pediatr. doi: 10.1016/S0022-3476(88)80157-4 contributor: fullname: Hall – volume: 93 start-page: 435 issue: 3 year: 1978 ident: 10.1016/j.bone.2021.115872_bb0060 article-title: Standard growth curves for achondroplasia publication-title: J Paediatr doi: 10.1016/S0022-3476(78)81152-4 contributor: fullname: Horton – start-page: 1 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0450 article-title: Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia publication-title: Br. J. Neurosurg. doi: 10.1080/02688697.2020.1817315 contributor: fullname: Cocca – volume: 173 start-page: 2189 issue: 8 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0355 article-title: Growth charts for Australian children with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38312 contributor: fullname: Tofts – volume: 54 start-page: 49 issue: 1 year: 1981 ident: 10.1016/j.bone.2021.115872_bb0210 article-title: Neurological manifestations of pediatric achondroplasia publication-title: J. Neurosurg. doi: 10.3171/jns.1981.54.1.0049 contributor: fullname: Yamada – volume: 182 start-page: 146 issue: 1 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0680 article-title: Weight gain velocity in infants with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61400 contributor: fullname: Buratti – volume: 116 start-page: 771 issue: 3 year: 2005 ident: 10.1016/j.bone.2021.115872_bb0225 article-title: American Academy of Pediatrics Committee on Genetics, Health supervision for children with achondroplasia publication-title: Pediatrics doi: 10.1542/peds.2005-1440 contributor: fullname: Trotter – volume: 7 start-page: 117 year: 2014 ident: 10.1016/j.bone.2021.115872_bb0030 article-title: Optimal management of complications associated with achondroplasia publication-title: Appl. Clin. Genet. doi: 10.2147/TACG.S51485 contributor: fullname: Ireland – volume: 35 start-page: 705 issue: 9 year: 1998 ident: 10.1016/j.bone.2021.115872_bb0155 article-title: Medical complications of achondroplasia: a multicentre patient review publication-title: J. Med. Genet. doi: 10.1136/jmg.35.9.705 contributor: fullname: Hunter – volume: 32 start-page: 528 issue: 4 year: 1989 ident: 10.1016/j.bone.2021.115872_bb0195 article-title: Growth of foramen magnum in achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1320320421 contributor: fullname: Hecht – volume: 48 start-page: 3 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0610 article-title: The natural history of achondroplasia publication-title: Basic Life Sci. contributor: fullname: Hall – volume: 56 start-page: 732 issue: 3 year: 1995 ident: 10.1016/j.bone.2021.115872_bb0515 article-title: Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia publication-title: Am. J. Hum. Genet. contributor: fullname: Pauli – volume: 104 start-page: 364 issue: 4 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0135 article-title: Physical, mental, and social problems of adolescent and adult patients with achondroplasia publication-title: Calcif. Tissue Int. doi: 10.1007/s00223-019-00518-z contributor: fullname: Matsushita – volume: 16 start-page: 140 issue: 2 year: 1979 ident: 10.1016/j.bone.2021.115872_bb0015 article-title: Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine publication-title: J. Med. Genet. doi: 10.1136/jmg.16.2.140 contributor: fullname: Oberklaid – volume: 97 start-page: 129 issue: 2 year: 2012 ident: 10.1016/j.bone.2021.115872_bb0085 article-title: Clinical management of achondroplasia publication-title: Arch. Dis. Child. doi: 10.1136/adc.2010.189092 contributor: fullname: Wright – volume: 170 start-page: 453 issue: 4 year: 2011 ident: 10.1016/j.bone.2021.115872_bb0360 article-title: Growth references for height, weight, and head circumference for argentine children with achondroplasia publication-title: Eur. J. Pediatr. doi: 10.1007/s00431-010-1302-8 contributor: fullname: del Pino – volume: 52 start-page: 1285 issue: 7 year: 1970 ident: 10.1016/j.bone.2021.115872_bb0280 article-title: Orthopaedic aspects of achondroplasia publication-title: J. Bone Joint Surg. Am. doi: 10.2106/00004623-197052070-00001 contributor: fullname: Bailey – volume: 41 start-page: 1815 issue: 15 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0735 article-title: Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the international classification of functioning disability and health: the Achondroplasia Personal Life Experience Scale (APLES) publication-title: Disabil. Rehabil. doi: 10.1080/09638288.2018.1447028 contributor: fullname: Bloemeke – volume: 120 start-page: 248 issue: 2 year: 1999 ident: 10.1016/j.bone.2021.115872_bb0315 article-title: Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations publication-title: Otolaryngol. Head Neck Surg. doi: 10.1016/S0194-5998(99)70414-6 contributor: fullname: Sisk – volume: 173 start-page: 868 issue: 4 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0300 article-title: Sleep-disordered breathing and its management in children with achondroplasia publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38130 contributor: fullname: Tenconi – volume: 155 start-page: 510 issue: 4 year: 2009 ident: 10.1016/j.bone.2021.115872_bb0505 article-title: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy publication-title: J. Pediatr. doi: 10.1016/j.jpeds.2009.04.031 contributor: fullname: Ednick – volume: 15 start-page: 123 issue: 1 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0405 article-title: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study publication-title: Orphanet J. Rare Dis. doi: 10.1186/s13023-020-01397-6 contributor: fullname: Fredwall – volume: 48 start-page: 305 year: 1988 ident: 10.1016/j.bone.2021.115872_bb0595 article-title: Kyphosis and lumbar stenosis in achondroplasia publication-title: Basic Life Sci. contributor: fullname: Nelson – volume: 127 start-page: 499 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0540 article-title: Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019 publication-title: Bone doi: 10.1016/j.bone.2019.07.020 contributor: fullname: Cheung – volume: 78 start-page: 335 issue: 2 year: 1994 ident: 10.1016/j.bone.2021.115872_bb0010 article-title: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia publication-title: Cell doi: 10.1016/0092-8674(94)90302-6 contributor: fullname: Shiang – volume: 466 start-page: 907 issue: 4 year: 2008 ident: 10.1016/j.bone.2021.115872_bb0270 article-title: Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis publication-title: Clin. Orthop. Relat. Res. doi: 10.1007/s11999-008-0142-6 contributor: fullname: Modi – volume: 145 issue: 6 year: 2020 ident: 10.1016/j.bone.2021.115872_bb0510 article-title: Committee on Genetics, health supervision for people with achondroplasia publication-title: Pediatrics doi: 10.1542/peds.2020-1010 contributor: fullname: Hoover-Fong – volume: 9 start-page: 410 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0485 article-title: The oxygen consumption and metabolic cost of walking and running in adults with achondroplasia publication-title: Front. Physiol. doi: 10.3389/fphys.2018.00410 contributor: fullname: Sims – ident: 10.1016/j.bone.2021.115872_bb0425 contributor: fullname: BioMarin Pharmaceutical – volume: 36 start-page: 886 issue: 11 year: 2011 ident: 10.1016/j.bone.2021.115872_bb0620 article-title: Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function publication-title: Spine doi: 10.1097/BRS.0b013e3181e7cb2a contributor: fullname: Carlisle – volume: 88 start-page: 145 issue: 2 year: 1999 ident: 10.1016/j.bone.2021.115872_bb0565 article-title: Neuroanatomic and neuropsychological outcome in school age children with achondroplasia publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(19990416)88:2<145::AID-AJMG10>3.0.CO;2-B contributor: fullname: Thompson – volume: 33 start-page: 227 issue: 3 year: 1970 ident: 10.1016/j.bone.2021.115872_bb0665 article-title: Achondroplasia–a genetic and statistical survey publication-title: Ann. Hum. Genet. doi: 10.1111/j.1469-1809.1970.tb01648.x contributor: fullname: Murdoch – ident: 10.1016/j.bone.2021.115872_bb0385 – ident: 10.1016/j.bone.2021.115872_bb0420 contributor: fullname: BioMarin Pharmaceutical – volume: 15 start-page: 53 issue: 2 year: 2017 ident: 10.1016/j.bone.2021.115872_bb0645 article-title: Current care and investigational therapies in achondroplasia publication-title: Current Osteoporosis Reports doi: 10.1007/s11914-017-0347-2 contributor: fullname: Unger – volume: 28 start-page: 2553 issue: 9 year: 2019 ident: 10.1016/j.bone.2021.115872_bb0715 article-title: Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia publication-title: Qual. Life Res. doi: 10.1007/s11136-019-02210-z contributor: fullname: Bloemeke – year: 2020 ident: 10.1016/j.bone.2021.115872_bb0415 contributor: fullname: de Vries – ident: 10.1016/j.bone.2021.115872_bb0435 contributor: fullname: Ascendis Pharma A/S – volume: 119 start-page: 551 year: 2014 ident: 10.1016/j.bone.2021.115872_bb0500 article-title: Neurologic manifestations of achondroplasia publication-title: Handb. Clin. Neurol. doi: 10.1016/B978-0-7020-4086-3.00036-9 contributor: fullname: Hecht – volume: 71 start-page: 42 issue: 1 year: 1989 ident: 10.1016/j.bone.2021.115872_bb0230 article-title: Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension publication-title: J. Neurosurg. doi: 10.3171/jns.1989.71.1.0042 contributor: fullname: Steinbok – volume: 27 start-page: 451 issue: 5 year: 2018 ident: 10.1016/j.bone.2021.115872_bb0635 article-title: Sleep-disordered breathing in children with rare skeletal disorders: a survey of clinical records publication-title: Med. Princ. Pract. doi: 10.1159/000491391 contributor: fullname: Zaffanello – volume: 146 start-page: 206 issue: 5 year: 1980 ident: 10.1016/j.bone.2021.115872_bb0650 article-title: Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia publication-title: Johns Hopkins Med. J. contributor: fullname: Kopits |
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| Title | Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history |
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