Document Detail

Mild Campomelic Dysplasia: Report on a Case and Review.
MedLine Citation:
PMID:  21373255     Owner:  NLM     Status:  Publisher    
We report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. Molecular analysis of the SOX9 gene revealed the presence of a de novo missense mutation: p.P170L (c.509C>T). Mild and surviving cases of campomelic dysplasia are reviewed.
S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-10
Journal Detail:
Title:  Molecular syndromology     Volume:  1     ISSN:  1661-8777     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-3-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101525192     Medline TA:  Mol Syndromol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  163-168     Citation Subset:  -    
Unité de Génétique Médicale and Laboratoire International Associé Inserm à l'UMR-S910, Faculté de Médecine, Université Saint Joseph, et.
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