title: Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
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.
authors.affiliation: Department of Pediatrics and Neonatology, Amrita Institute of Medical Sciences and Researh Centre, Cochin, Kerala, India.
authors.forename: Hariharan
authors.initials: H
authors.lastname: Gopakumar
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Gerd
authors.initials: G
authors.lastname: Scherer
authors.forename: P K
authors.initials: PK
authors.lastname: Rajiv
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
mesh_terms: D055036:Campomelic Dysplasia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D055758:SOX9 Transcription Factor / Q000235:genetics*
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human
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