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Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation

Publisher : Indian Journal of Pediatrics

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2013, 2014

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. © 2013 Dr. K C Chaudhuri Foundation.

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