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Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome

Overview of attention for article published in American Journal of Medical Genetics. Part A, April 2015
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Title
Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome
Published in
American Journal of Medical Genetics. Part A, April 2015
DOI 10.1002/ajmg.a.36899
Pubmed ID
Authors

Jennifer E Posey, Lindsay C Burrage, Philippe M Campeau, James T Lu, Tanya N Eble, Lisa Kratz, Alan E Schlesinger, Richard A Gibbs, Brendan H Lee, Sandesh C S Nagamani

Abstract

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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Mendeley readers

The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 21 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 14%
Student > Postgraduate 2 10%
Student > Doctoral Student 1 5%
Student > Bachelor 1 5%
Other 1 5%
Other 4 19%
Unknown 9 43%
Readers by discipline Count As %
Medicine and Dentistry 6 29%
Biochemistry, Genetics and Molecular Biology 2 10%
Agricultural and Biological Sciences 2 10%
Immunology and Microbiology 1 5%
Unknown 10 48%