Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?
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| Published in | American Journal of Medical Genetics Part A Vol. 146A; no. 24; pp. 3198 - 3201 |
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| Main Authors | , , , , , , , |
| Format | Report |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
15.12.2008
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| Author | Chouery, Eliane Jalkh, Nadine Samaras, Leila Caillaud, Catherine Abou-Ghoch, Joelle Chédid, Rima Mégarbané, André Chrétien, Dominique |
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| Author_xml | – sequence: 1 givenname: André surname: Mégarbané fullname: Mégarbané, André email: megarbane@usj.edu.lb organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon – sequence: 2 givenname: Leila surname: Samaras fullname: Samaras, Leila organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon – sequence: 3 givenname: Rima surname: Chédid fullname: Chédid, Rima organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon – sequence: 4 givenname: Eliane surname: Chouery fullname: Chouery, Eliane organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon – sequence: 5 givenname: Dominique surname: Chrétien fullname: Chrétien, Dominique organization: Inserm U781 and Department of Genetics, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, Paris, France – sequence: 6 givenname: Catherine surname: Caillaud fullname: Caillaud, Catherine organization: INSERM, U567, Université Paris Descartes, CNRS (UMR 8104), Paris, France – sequence: 7 givenname: Joelle surname: Abou-Ghoch fullname: Abou-Ghoch, Joelle organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon – sequence: 8 givenname: Nadine surname: Jalkh fullname: Jalkh, Nadine organization: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon |
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| DOI | 10.1002/ajmg.a.32579 |
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| Notes | ark:/67375/WNG-1LHKQCR6-H How to cite this article: Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. 2008. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? Am J Med Genet Part A 146A:3198-3201. istex:E60937CEAD9ACC40D74C75473BFFF8F038ED654B Association Française contre la Myopathie (AFM) ArticleID:AJMG32579 |
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| PublicationTitle | American Journal of Medical Genetics Part A |
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| References | Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. 2005. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol 62: 745-747. Haas D, Hoffmann GF. 2006. Mevalonate kinase deficiencies: From mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 1: 13. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. 2002. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet 71: 952-958. Moser HW. 1999. Genotype-phenotype correlations in disorders of perozisome biogenesis. Mol Genet Metab 68: 316-327. Kaplan B, Rabinerson D, Avrech OM, Carmi N, Steinberg DM, Merlob P. 1998. Fracture of the clavicle in the newborn following normal labor and delivery. Int J Gynaecol Obstet 63: 15-20. Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM. 2006. Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr 149: 713-717. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. 2001. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29: 337-341. Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G. 2005. Clinical phenotype of lathosterolosis. Am J Med Genet 15: 2371-2381. Salonen IS, Uusitalo R. 1990. Birth injuries: Incidence and predisposing factors. Z Kinderchir 45: 133-135. Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. 1991. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492-501. |
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| SubjectTerms | bones consanguinity liver malformations skin |
| Title | Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? |
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