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.
cited By (since 1996)0; Article in Press
Ha Gopakumar, Superti-Furga, Ab, Unger, Sc, Scherer, Gd, Rajiv, P. Ke, and Nampoothiri, Sf, “Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation”, Indian Journal of Pediatrics, pp. 1-3, 2013.