| Mild Campomelic Dysplasia: Report on a Case and Review. | |
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MedLine Citation:
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PMID: 21373255 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-1-10 |
Journal Detail:
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Title: Molecular syndromology Volume: 1 ISSN: 1661-8777 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-3-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525192 Medline TA: Mol Syndromol Country: - |
Other Details:
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Languages: ENG Pagination: 163-168 Citation Subset: - |
Affiliation:
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Unité de Génétique Médicale and Laboratoire International Associé Inserm à l'UMR-S910, Faculté de Médecine, Université Saint Joseph, et. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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