Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of ne...

Full description

Saved in:
Bibliographic Details
Published inOrphanet journal of rare diseases Vol. 16; no. 1; pp. 231 - 15
Main Authors Duker, Angela L, Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M, Thompson, Louise, Parry, David A, Carroll, Ricki S, Bober, Michael B
Format Journal Article
LanguageEnglish
Published England BioMed Central Ltd 20.05.2021
BioMed Central
BMC
Subjects
Online AccessGet full text

Cover

Loading…
Abstract Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.
AbstractList Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.
Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Results Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. Conclusions It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation. Keywords: MOPDII, Primordial dwarfism, Vascular disease, Moyamoya, Aneurysm, Stroke, Myocardial infarction, Diabetes, Chronic kidney disease, Kaplan-Meier
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry.BACKGROUNDMicrocephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry.Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities.RESULTSMedical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities.It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.CONCLUSIONSIt is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.
Abstract Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Results Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. Conclusions It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.
ArticleNumber 231
Audience Academic
Author Jordan, Christy
Niiler, Tim
Duker, Angela L
Bober, Michael B
Kinderman, Dagmar
Thompson, Louise
Baker-Smith, Carissa M
Carroll, Ricki S
Parry, David A
Author_xml – sequence: 1
  givenname: Angela L
  surname: Duker
  fullname: Duker, Angela L
  organization: Skeletal Dysplasia Program, Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA
– sequence: 2
  givenname: Dagmar
  surname: Kinderman
  fullname: Kinderman, Dagmar
  organization: Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA
– sequence: 3
  givenname: Christy
  surname: Jordan
  fullname: Jordan, Christy
  organization: Potentials Foundation, Sandoval, IL, USA
– sequence: 4
  givenname: Tim
  surname: Niiler
  fullname: Niiler, Tim
  organization: Gait Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA
– sequence: 5
  givenname: Carissa M
  surname: Baker-Smith
  fullname: Baker-Smith, Carissa M
  organization: Department of Cardiology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA
– sequence: 6
  givenname: Louise
  surname: Thompson
  fullname: Thompson, Louise
  organization: The South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK
– sequence: 7
  givenname: David A
  surname: Parry
  fullname: Parry, David A
  organization: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK
– sequence: 8
  givenname: Ricki S
  surname: Carroll
  fullname: Carroll, Ricki S
  organization: Skeletal Dysplasia Program, Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA
– sequence: 9
  givenname: Michael B
  orcidid: 0000-0002-6178-1264
  surname: Bober
  fullname: Bober, Michael B
  email: mbober@nemours.org
  organization: Skeletal Dysplasia Program, Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA. mbober@nemours.org
BackLink https://www.ncbi.nlm.nih.gov/pubmed/34016138$$D View this record in MEDLINE/PubMed
BookMark eNptkttq3DAQhk1JaQ7tC_SiGHqTXjjVSLasvSmE0MNCSqGHazGWxl4Fr-VK3qT79pWzaYihEuj4za8Z8Z9mR4MfKMteA7sAUPJ9BMG4KBiHgoGqeLF_lp1AXbECoOZHT9bH2WmMN4yVlWDqRXYsSgYShDrJ7Fdngjc0brB3JvdxIm_3cewxTmk_Brf1wTrsc3uHoXVxm0_7kfL1Oncxxxi9cTiRze_ctMm73jcJvcVodj2G3LpIGOll9rzFPtKrh_ks-_Xp48-rL8X1t8_rq8vrwlRyNRVkbN0YZJVijbK2mYdWWkk1rBS1ivMaUqMGamxsJbngQklbM2lLaKAVZ9n6oGs93ug5dwx77dHp-wMfOo0hldWThhVvKlBcAldlI2tEJVeqEtBSWZJhSevDQWvcNVuyhoYpYL8QXd4MbqM7f6sViBVIkQTOHwSC_72jOOmti4b6Hgfyu6h5eozPGZQJfXtAO0ypuaH1SdHMuL6UsiqFqmCmLv5DpW5p60yyRuvS-SLg3SIgMRP9mTrcxajXP74vWX5gkxtiDNQ-VgpMz27TB7fp5DZ97za9T0Fvnv7RY8g_e4m_CUjR8g
CitedBy_id crossref_primary_10_3389_fendo_2023_1018441
crossref_primary_10_61107_pacr_2023_007
crossref_primary_10_3390_brainsci13101454
crossref_primary_10_13104_imri_2022_1106
crossref_primary_10_1177_1358863X241254796
crossref_primary_10_1172_jci_insight_173247
crossref_primary_10_48057_hematologa_v28i1_567
crossref_primary_10_1186_s12920_022_01226_8
crossref_primary_10_1016_j_ejmg_2023_104733
Cites_doi 10.1038/ng.2007.80
10.1002/ajmg.a.33252
10.1002/ajmg.a.38467
10.3171/2016.6.PEDS16243
10.1002/ajmg.a.31301
10.1126/science.1151174
10.1007/s00431-003-1310-z
10.3171/2009.6.PEDS08137
10.1111/j.1463-1326.2006.00655.x
10.1542/peds.2017-1904
10.1016/j.pediatrneurol.2012.12.010
10.1097/BPO.0000000000000183
10.1002/ajmg.a.35447
10.1007/s004670050623
10.1002/ajmg.a.33657
10.1038/s10038-019-0626-0
10.3346/jkms.2015.30.4.470
10.1007/s11914-017-0348-1
10.1007/s00431-014-2368-5
10.1177/0883073812448531
10.1093/ehjci/jew006
10.1002/ajmg.a.30203
10.1161/01.STR.31.3.733
10.1093/aje/kwv208
10.1002/ajmg.1320120104
10.1056/NEJMra0804622
10.1016/j.jacc.2019.08.1017
10.1002/ajmg.a.31009
10.2214/ajr.183.1.1830119
10.1002/ajmg.a.33984
10.1016/j.ejpn.2015.11.002
10.1016/j.beem.2010.10.015
10.1055/s-2008-1038847
10.1136/jmg.2009.067298
10.1016/j.jvs.2007.03.055
10.1101/gad.169037
10.1159/000322017
10.32614/CRAN.package.survminer
ContentType Journal Article
Copyright COPYRIGHT 2021 BioMed Central Ltd.
The Author(s) 2021
Copyright_xml – notice: COPYRIGHT 2021 BioMed Central Ltd.
– notice: The Author(s) 2021
DBID CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
ISR
7X8
5PM
DOA
DOI 10.1186/s13023-021-01852-y
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Gale In Context: Science
MEDLINE - Academic
PubMed Central (Full Participant titles)
Directory of Open Access Journals
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
DatabaseTitleList

MEDLINE - Academic
MEDLINE


Database_xml – sequence: 1
  dbid: DOA
  name: DOAJ Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 3
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1750-1172
EndPage 15
ExternalDocumentID oai_doaj_org_article_192b518261284b67aa8698531fe44ec0
A665438514
10_1186_s13023_021_01852_y
34016138
Genre Research Support, Non-U.S. Gov't
Journal Article
GeographicLocations United States
GeographicLocations_xml – name: United States
GrantInformation_xml – fundername: ;
GroupedDBID ---
-A0
0R~
123
29N
2WC
3V.
53G
5VS
7X7
88E
8FI
8FJ
AAFWJ
AAJSJ
AAWTL
ABDBF
ABUWG
ACGFO
ACGFS
ACIHN
ACPRK
ACRMQ
ADBBV
ADINQ
ADRAZ
ADUKV
AEAQA
AENEX
AFKRA
AHBYD
AHMBA
AHYZX
ALIPV
ALMA_UNASSIGNED_HOLDINGS
AMKLP
AMTXH
AN0
AOIJS
BAPOH
BAWUL
BCNDV
BENPR
BFQNJ
BMC
BNQBC
BPHCQ
BVXVI
C24
C6C
CCPQU
CGR
CS3
CUY
CVF
DIK
DU5
E3Z
EBD
EBLON
EBS
ECM
EIF
EMOBN
ESX
F5P
FYUFA
GROUPED_DOAJ
GX1
HMCUK
HYE
IAO
IHR
INH
INR
ISR
ITC
KQ8
M1P
M48
MK0
M~E
NPM
O5R
O5S
OK1
P2P
PGMZT
PIMPY
PQQKQ
PROAC
PSQYO
RBZ
RNS
ROL
RPM
RSV
SMD
SOJ
SV3
TR2
TUS
UKHRP
WOQ
WOW
~8M
AAYXX
CITATION
AFGXO
AFPKN
7X8
5PM
ID FETCH-LOGICAL-c569t-ecd7bca0580b8ddbb8ddf6d6e7198ef82271111eb17abd56232386d706d41b1f3
IEDL.DBID RPM
ISSN 1750-1172
IngestDate Tue Oct 22 15:14:11 EDT 2024
Tue Sep 17 21:26:51 EDT 2024
Sat Oct 26 04:24:25 EDT 2024
Tue Nov 19 21:04:37 EST 2024
Tue Nov 12 22:35:25 EST 2024
Thu Aug 01 19:47:26 EDT 2024
Fri Nov 22 02:28:30 EST 2024
Sat Nov 02 12:29:31 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 1
Keywords Myocardial infarction
Vascular disease
Stroke
Kaplan–Meier
MOPDII
Moyamoya
Aneurysm
Chronic kidney disease
Diabetes
Primordial dwarfism
Language English
License Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c569t-ecd7bca0580b8ddbb8ddf6d6e7198ef82271111eb17abd56232386d706d41b1f3
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ORCID 0000-0002-6178-1264
OpenAccessLink https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139163/
PMID 34016138
PQID 2531218264
PQPubID 23479
PageCount 15
ParticipantIDs doaj_primary_oai_doaj_org_article_192b518261284b67aa8698531fe44ec0
pubmedcentral_primary_oai_pubmedcentral_nih_gov_8139163
proquest_miscellaneous_2531218264
gale_infotracmisc_A665438514
gale_infotracacademiconefile_A665438514
gale_incontextgauss_ISR_A665438514
crossref_primary_10_1186_s13023_021_01852_y
pubmed_primary_34016138
PublicationCentury 2000
PublicationDate 2021-05-20
PublicationDateYYYYMMDD 2021-05-20
PublicationDate_xml – month: 05
  year: 2021
  text: 2021-05-20
  day: 20
PublicationDecade 2020
PublicationPlace England
PublicationPlace_xml – name: England
– name: London
PublicationTitle Orphanet journal of rare diseases
PublicationTitleAlternate Orphanet J Rare Dis
PublicationYear 2021
Publisher BioMed Central Ltd
BioMed Central
BMC
Publisher_xml – name: BioMed Central Ltd
– name: BioMed Central
– name: BMC
References JK Dieks (1852_CR20) 2014; 173
ED Parker (1852_CR36) 2016; 183
F Majewski (1852_CR1) 1982; 12
1852_CR39
JG Hall (1852_CR2) 2004; 130A
TM Nam (1852_CR29) 2015; 30
S Rahman (1852_CR34) 2007; 9
B Kaas (1852_CR27) 2013; 28
P Kantaputra (1852_CR10) 2011; 155A
DM Milewicz (1852_CR25) 2010; 152A
A Rauch (1852_CR5) 2008; 319
MB Bober (1852_CR18) 2012; 158A
P Moftakhar (1852_CR15) 2010; 46
MB Bober (1852_CR7) 2017; 15
MJ Sarnak (1852_CR35) 2019; 74
AL Duker (1852_CR17) 2017; 173
RM Scott (1852_CR40) 2009; 360
M Willems (1852_CR8) 2009; 47
JS Waldron (1852_CR13) 2009; 4
K Saida (1852_CR26) 2019; 64
AF Karatas (1852_CR11) 2014; 34
E Griffith (1852_CR6) 2008; 40
JT Flynn (1852_CR23) 2017; 140
A Rauch (1852_CR4) 2011; 25
P Moceri (1852_CR30) 2016; 17
I Yamada (1852_CR31) 2000; 31
JW Baek (1852_CR33) 2016; 20
JM Sorof (1852_CR38) 1999; 13
A Klingseisen (1852_CR3) 2011; 25
MB Bober (1852_CR14) 2010; 152A
R Di Bartolomeo (1852_CR37) 2003; 162
GS Oderich (1852_CR28) 2007; 46
J Seeburger (1852_CR19) 2009; 57
F Brancati (1852_CR12) 2005; 139A
O Togao (1852_CR32) 2004; 183
I Huang-Doran (1852_CR9) 2011; 60
1852_CR22
M Teo (1852_CR16) 2016; 25
1852_CR21
1852_CR24
References_xml – volume: 40
  start-page: 232
  issue: 2
  year: 2008
  ident: 1852_CR6
  publication-title: Nat Genet
  doi: 10.1038/ng.2007.80
  contributor:
    fullname: E Griffith
– volume: 152A
  start-page: 960
  year: 2010
  ident: 1852_CR14
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.33252
  contributor:
    fullname: MB Bober
– volume: 173
  start-page: 3067
  issue: 11
  year: 2017
  ident: 1852_CR17
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.38467
  contributor:
    fullname: AL Duker
– volume: 25
  start-page: 717
  issue: 6
  year: 2016
  ident: 1852_CR16
  publication-title: J Neurosurg Pediatr
  doi: 10.3171/2016.6.PEDS16243
  contributor:
    fullname: M Teo
– ident: 1852_CR39
  doi: 10.1002/ajmg.a.31301
– volume: 319
  start-page: 816
  issue: 5864
  year: 2008
  ident: 1852_CR5
  publication-title: Science
  doi: 10.1126/science.1151174
  contributor:
    fullname: A Rauch
– volume: 162
  start-page: 860
  issue: 12
  year: 2003
  ident: 1852_CR37
  publication-title: Eur J Pediatr
  doi: 10.1007/s00431-003-1310-z
  contributor:
    fullname: R Di Bartolomeo
– volume: 4
  start-page: 439
  year: 2009
  ident: 1852_CR13
  publication-title: J Neurosurg Pediatr
  doi: 10.3171/2009.6.PEDS08137
  contributor:
    fullname: JS Waldron
– volume: 9
  start-page: 767
  issue: 6
  year: 2007
  ident: 1852_CR34
  publication-title: Diabetes Obes Metab
  doi: 10.1111/j.1463-1326.2006.00655.x
  contributor:
    fullname: S Rahman
– volume: 140
  start-page: e20171904
  issue: 3
  year: 2017
  ident: 1852_CR23
  publication-title: Pediatrics
  doi: 10.1542/peds.2017-1904
  contributor:
    fullname: JT Flynn
– ident: 1852_CR24
  doi: 10.1016/j.pediatrneurol.2012.12.010
– volume: 34
  start-page: 585
  year: 2014
  ident: 1852_CR11
  publication-title: J Pediatr Orthop
  doi: 10.1097/BPO.0000000000000183
  contributor:
    fullname: AF Karatas
– ident: 1852_CR22
– volume: 158A
  start-page: 2719
  issue: 11
  year: 2012
  ident: 1852_CR18
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.35447
  contributor:
    fullname: MB Bober
– volume: 13
  start-page: 343
  issue: 4
  year: 1999
  ident: 1852_CR38
  publication-title: Pediatr Nephrol
  doi: 10.1007/s004670050623
  contributor:
    fullname: JM Sorof
– volume: 60
  start-page: 925
  year: 2011
  ident: 1852_CR9
  publication-title: Cells
  contributor:
    fullname: I Huang-Doran
– volume: 152A
  start-page: 2437
  issue: 10
  year: 2010
  ident: 1852_CR25
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.33657
  contributor:
    fullname: DM Milewicz
– volume: 64
  start-page: 885
  issue: 9
  year: 2019
  ident: 1852_CR26
  publication-title: J Hum Genet
  doi: 10.1038/s10038-019-0626-0
  contributor:
    fullname: K Saida
– volume: 30
  start-page: 470
  issue: 4
  year: 2015
  ident: 1852_CR29
  publication-title: J Korean Med Sci
  doi: 10.3346/jkms.2015.30.4.470
  contributor:
    fullname: TM Nam
– volume: 15
  start-page: 61
  issue: 2
  year: 2017
  ident: 1852_CR7
  publication-title: Curr Osteoporos Rep
  doi: 10.1007/s11914-017-0348-1
  contributor:
    fullname: MB Bober
– volume: 173
  start-page: 1253
  issue: 9
  year: 2014
  ident: 1852_CR20
  publication-title: Eur J Pediatr
  doi: 10.1007/s00431-014-2368-5
  contributor:
    fullname: JK Dieks
– volume: 28
  start-page: 561
  issue: 5
  year: 2013
  ident: 1852_CR27
  publication-title: J Child Neurol
  doi: 10.1177/0883073812448531
  contributor:
    fullname: B Kaas
– volume: 17
  start-page: 575
  issue: 5
  year: 2016
  ident: 1852_CR30
  publication-title: Eur Heart J Cardiovasc Imaging
  doi: 10.1093/ehjci/jew006
  contributor:
    fullname: P Moceri
– volume: 130A
  start-page: 55
  year: 2004
  ident: 1852_CR2
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.30203
  contributor:
    fullname: JG Hall
– volume: 31
  start-page: 733
  issue: 3
  year: 2000
  ident: 1852_CR31
  publication-title: Stroke
  doi: 10.1161/01.STR.31.3.733
  contributor:
    fullname: I Yamada
– volume: 183
  start-page: 79
  issue: 1
  year: 2016
  ident: 1852_CR36
  publication-title: Am J Epidemiol
  doi: 10.1093/aje/kwv208
  contributor:
    fullname: ED Parker
– volume: 12
  start-page: 23
  year: 1982
  ident: 1852_CR1
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320120104
  contributor:
    fullname: F Majewski
– volume: 360
  start-page: 1226
  issue: 12
  year: 2009
  ident: 1852_CR40
  publication-title: N Engl J Med
  doi: 10.1056/NEJMra0804622
  contributor:
    fullname: RM Scott
– volume: 74
  start-page: 1823
  issue: 14
  year: 2019
  ident: 1852_CR35
  publication-title: J Am Coll Cardiol
  doi: 10.1016/j.jacc.2019.08.1017
  contributor:
    fullname: MJ Sarnak
– volume: 139A
  start-page: 212
  year: 2005
  ident: 1852_CR12
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.31009
  contributor:
    fullname: F Brancati
– volume: 183
  start-page: 119
  issue: 1
  year: 2004
  ident: 1852_CR32
  publication-title: AJR Am J Roentgenol
  doi: 10.2214/ajr.183.1.1830119
  contributor:
    fullname: O Togao
– volume: 155A
  start-page: 1398
  year: 2011
  ident: 1852_CR10
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.33984
  contributor:
    fullname: P Kantaputra
– volume: 20
  start-page: 20
  issue: 1
  year: 2016
  ident: 1852_CR33
  publication-title: Eur J Paediatr Neurol
  doi: 10.1016/j.ejpn.2015.11.002
  contributor:
    fullname: JW Baek
– volume: 25
  start-page: 125
  year: 2011
  ident: 1852_CR4
  publication-title: Best Pract Res Clin Endocrinol Metab
  doi: 10.1016/j.beem.2010.10.015
  contributor:
    fullname: A Rauch
– volume: 57
  start-page: 169
  issue: 3
  year: 2009
  ident: 1852_CR19
  publication-title: Thorac Cardiovasc Surg
  doi: 10.1055/s-2008-1038847
  contributor:
    fullname: J Seeburger
– volume: 47
  start-page: 797
  year: 2009
  ident: 1852_CR8
  publication-title: J Med Genet
  doi: 10.1136/jmg.2009.067298
  contributor:
    fullname: M Willems
– volume: 46
  start-page: 475
  issue: 3
  year: 2007
  ident: 1852_CR28
  publication-title: J Vasc Surg
  doi: 10.1016/j.jvs.2007.03.055
  contributor:
    fullname: GS Oderich
– volume: 25
  start-page: 2011
  year: 2011
  ident: 1852_CR3
  publication-title: Genes Dev
  doi: 10.1101/gad.169037
  contributor:
    fullname: A Klingseisen
– volume: 46
  start-page: 373
  issue: 5
  year: 2010
  ident: 1852_CR15
  publication-title: Pediatr Neurosurg
  doi: 10.1159/000322017
  contributor:
    fullname: P Moftakhar
– ident: 1852_CR21
  doi: 10.32614/CRAN.package.survminer
SSID ssj0045308
Score 2.3969028
Snippet Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the...
Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in...
Abstract Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic...
SourceID doaj
pubmedcentral
proquest
gale
crossref
pubmed
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
StartPage 231
SubjectTerms Adolescent
Adult
Aneurysm
Child
Child, Preschool
Complications and side effects
Dwarfism
Dwarfism - genetics
Fetal Growth Retardation
Humans
Microcephaly
MOPDII
Moyamoya
Neurovascular diseases
Osteochondrodysplasias - genetics
Primordial dwarfism
Risk factors
Stroke
Vascular disease
Vascular Diseases - genetics
Young Adult
SummonAdditionalLinks – databaseName: Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LT9wwELYQh4pLBRTa8KjcqhKHKiIPv3KkFYittBzaInGz_AqsBNkV2T3sv2cmTtBGPfTCZQ_riRT7s2c-xzOfCfmmWEABXPB-rLYpqyxLjRc8NU5JnxtU6cJC4emNuL5lv-743cZVX5gTFuWB48CdAwOxHEkwOlIrpDFKVBBj8jowFlzcrWfFsJmKPpjxMlNDiYwS5y0ez-F5JW6dFS_S9SgMdWr9__rkjaA0TpjciEBXu-R9Tx3pRXzlPbIVmn3ybtofjn8gforJdS4sHoBbO4rVG3O_bhfAj-EJungGWHA6PFK8qLmetU8UP8DSyYTOWmp6nIKn-G2WRqUQOmSq0v4k54DcXl3-_Xmd9pcopI6LapkG56V1JuMqs8p7iz-18CLIvFKhBn4g0WuCy5bGemRDEMSFl5nwLLd5XR6S7WbehE9Y3m3LYIIFBuVZp1xfVEHwuhKKVXkpE_J9GFO9iFoZuttjKKEjAhoQ0B0Cep2QHzjsr5aoc939AejrHn39P_QT8hVB06hk0WCqzL1Zta2e_PmtL_Be5RIIJUvIWW9UzwE-Z_rKA-gVil-NLE9GlrDU3Kj5yzA3NDZhfloT5qtWF_BKqIUvwOZjnCuvHSsZ0upSJUSOZtGo5-OWZvbQKX2rHOuiy6O3GKpjslN0C4CDZzwh28vnVTgFQrW0n7u18wLNlRwo
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: Scholars Portal Open Access Journals
  dbid: M48
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELZKkapeEOUZKJVBSBxQIA_HcQ4ItYiqi7QcgJV6s_xKu1JJls2uxP57ZhxntRE99ZJDPJZiz4znczzzmZC3gjkkwIXVj9U6ZpVmsbK8iJURpU0VsnRhofD0O7-YsW-XxeUeGa47ChPY3bq1w_ukZsubD3__bD6Dw3_yDi_4xw4P3_A0EjfGosjizT1yP4PIiCleU7Y9VWBFnoihcObWfofkIGcIgrBcZSdOeTr__xftnag1zqjcCVHnD8mDgC3paW8MR2TPNY_IwTScnj8mdorZd8YtrgF8G4rlHa3ddAsA0NCDLpagN7SXG4o3Odfz7jfFP7R0MqHzjqqgSGcp_rylPZUIHVJZaTjqeUJm519_fbmIwy0LsSl4tYqdsaU2KilEooW1Gh81t9yVaSVcDQCixGUV1vRSaYtwCaI8t2XCLUt1WudPyX7TNu451n_r3CmnAWJZ5qnts8rxoq64YFWalxF5P8ypXPRkGtJvQgSXvTIkKEN6ZchNRM5w2reSSITtX7TLKxn8SgJA1QXukTDOal4qJXgFECStHWPOJBF5g0qTSHXRYC7NlVp3nZz8_CFP8eLlHBAni8i7IFS3oD6jQmkCjArZsUaSxyNJ8EUzan492IbEJkxga1y77mQGn4Rk-RxknvW2sh3YYHIRKUdWNBr5uKWZX3sqcJFi4XT-4s49X5LDzDtAAevlMdlfLdfuFcCslT7xvvMP9rUlvQ
  priority: 102
  providerName: Scholars Portal
Title Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
URI https://www.ncbi.nlm.nih.gov/pubmed/34016138
https://www.proquest.com/docview/2531218264
https://pubmed.ncbi.nlm.nih.gov/PMC8139163
https://doaj.org/article/192b518261284b67aa8698531fe44ec0
Volume 16
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3da9swEBdtB6UvY9_L1gVtDPYw3NixLMuPaWlpAi6lXSFvQl9uA40d4uQh__3uZLvE7G0vNlhnsHynu5-ku58I-SmYQwJc8H6s0AHLNAuU5UmgjEhtpJClCwuF8xt-_cBm82R-QJKuFsYn7Ru9OCufl2fl4snnVq6WZtTliY1u8wsRYbloPDokhxB-uyl6435ZEoeiq44RfFTjzhxuVeKsWSTjYHdCjmOGSAdrUvaCkefs_9cz74WmftrkXhy6ekNetwCSTpoPfUsOXPmOHOftFvl7YnNMsTNu9QQI21Cs4ajsrl4BSoY36GoNykGjeKZ4XHOxqJcUl2HpdEoXNVWttpyluEJLG74Q2uWr0nY_5wN5uLr8c3EdtEcpBCbh2SZwxqbaqDARoRbWarwU3HKXRplwBaCEFH0nOO5UaYuYCEI5t2nILYt0VMQfyVFZle4zFnnr2CmnAUdZ5vnrx5njSZFxwbIoTgfkd_dP5aphzJB-piG4bJQhQRnSK0PuBuQcf_uLJLJd-wfV-lG2OpeAQnWCEyEMppqnSgmeAc6ICseYM-GA_EClSeSzKDFh5lFt61pO7-_kBE9XjgFWsgH51QoVFajPqLb-AHqFFFg9ydOeJAw402v-3tmGxCbMUitdta3lGD4JGfE5yHxqbOWlY53JDUjas6Jez_stYP6e77s19y___eZXcjL2AyABp3hKjjbrrfsGWGqjhzCC5umQvJpMZvczuJ9f3tzeDf3KBFxzJoZ-dP0FP7Qj2A
link.rule.ids 230,314,727,780,784,864,885,2102,2221,24318,27924,27925,31720,33745,53791,53793
linkProvider National Library of Medicine
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELZKkUoviDeBAgYhcUDpJhvbcY6lotqFpkLQSr1ZfqVdqZtEm93D_ntm8qg24sYlh3gs2ZnxzOd45jMhnyXzSIAL3o8VJmSZYaF2gofaytTFGlm6sFA4vxCzK_bjml_vET7UwrRJ-9Ysjsu75XG5uG1zK-ulnQx5YpNf-amMsVw0mTwgD3mSZvGwSe8cMONJJIf6GCkmDZ7N4WEl7psln4bbQ3KQMMQ6WJWyE45a1v5_ffNOcBonTu5EorMn5HEPIelJN9SnZM-Xz8hB3h-SPycuxyQ76-tbwNiWYhVH5bZNDTgZetB6BepBs7ijeGFzsWiWFH_E0vmcLhqqe315R_EfLe0YQ-iQsUr7E50X5Ors--XpLOwvUwgtF9k69NalxuqIy8hI5ww-CuGET-NM-gJwQoreE1x3qo1DVATBXLg0Eo7FJi6Sl2S_rEr_Gsu8TeK1N4CkHGsZ7KeZF7zIhGRZnKQB-Tp8U1V3nBmq3WtIoTplKFCGapWhtgH5hp_9XhL5rtsX1epG9VpXgEMNx60QhlMjUq2lyABpxIVnzNsoIJ9QaQoZLUpMmbnRm6ZR8z-_1Qner5wAsGQB-dILFRWoz-q-AgFmhSRYI8mjkSQsOTtq_jjYhsImzFMrfbVp1BSGhJz4AmRedbZyP7HB5AKSjqxoNPNxCyyAlvG7N_g3_93zA3k0u8zP1fn84udbcjhtFwMHF3lE9terjX8HyGpt3rfr6C8K-yFR
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELagSKteEG8CBQxC4oDSJBvbcY6lsOoCW1VApd4sv9Ku1E2ize5h_z0zeVQbceOSQzyW7Mx45nM885mQj5J5JMAF78cKE7LcsFA7wUNtZeYSjSxdWCi8OBdnl-z7Fb_au-qrTdq3Znlc3q6Oy-VNm1tZr2w05IlFF4tTmWC5aBrVrojukwc8BSMbNuqdE2Y8jeVQIyNF1OD5HB5Y4t5Z8mm4OySTlCHewcqUvZDUMvf_65_3AtQ4eXIvGs0ekYc9jKQn3XAfk3u-fEImi_6g_ClxC0y0s76-AZxtKVZyVG7X1ICVoQet16AiNI1bipc2F8tmRfFnLJ3P6bKhuteZdxT_09KONYQOWau0P9V5Ri5n3_6cnoX9hQqh5SLfhN66zFgdcxkb6ZzBRyGc8FmSS18AVsjQg4L7zrRxiIwgoAuXxcKxxCRF-pwclFXpX2Kpt0m99gbQlGMti_0094IXuZAsT9IsIJ-Hb6rqjjdDtfsNKVSnDAXKUK0y1C4gX_Cz30ki53X7olpfq17zCrCo4bgdwpBqRKa1FDmgjaTwjHkbB-QDKk0hq0WJaTPXets0av77lzrBO5ZTAJcsIJ96oaIC9VndVyHArJAIayR5NJKEZWdHze8H21DYhLlqpa-2jZrCkJAXX4DMi85W7iY2mFxAspEVjWY-boFF0LJ-90b_6r97viOTi68z9XN-_uM1OZy2a4GDlzwiB5v11r8BcLUxb9tl9BcqASJk
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Microcephalic+osteodysplastic+primordial+dwarfism+type+II+is+associated+with+global+vascular+disease&rft.jtitle=Orphanet+journal+of+rare+diseases&rft.au=Duker%2C+Angela+L.&rft.au=Kinderman%2C+Dagmar&rft.au=Jordan%2C+Christy&rft.au=Niiler%2C+Tim&rft.date=2021-05-20&rft.pub=BioMed+Central&rft.eissn=1750-1172&rft.volume=16&rft_id=info:doi/10.1186%2Fs13023-021-01852-y&rft_id=info%3Apmid%2F34016138&rft.externalDBID=PMC8139163
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1750-1172&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1750-1172&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1750-1172&client=summon