Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.

Details

Serval ID
serval:BIB_D60C135BCF00
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.
Journal
Indian Journal of Pediatrics
Author(s)
Gopakumar H., Superti-Furga A., Unger S., Scherer G., Rajiv P.K., Nampoothiri S.
ISSN
0973-7693 (Electronic)
ISSN-L
0019-5456
Publication state
Published
Issued date
2014
Volume
81
Number
1
Pages
98-100
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish. pdf type: case report
Abstract
Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.
Pubmed
Web of science
Create date
07/02/2014 19:18
Last modification date
20/08/2019 16:55
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