Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
Conradi‐Hünermann‐Happle syndrome, or X‐linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform e...
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Published in | American journal of medical genetics. Part A Vol. 167A; no. 6; pp. 1309 - 1314 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Blackwell Publishing Ltd
01.06.2015
Wiley Subscription Services, Inc |
Subjects | |
Online Access | Get full text |
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Summary: | Conradi‐Hünermann‐Happle syndrome, or X‐linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36‐year‐old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As in many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders. © 2015 Wiley Periodicals, Inc. |
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Bibliography: | Baylor College of Medicine Intellectual and Developmental Disabilities Research Center - No. HD024064 istex:4DF383B072D50C647E9F4BE83B9F232BFA6685DB ArticleID:AJMGA36899 ark:/67375/WNG-89D3R5LW-7 National Institute of Child Health and Human Development - No. P01 HD070394 |
ISSN: | 1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.36899 |