Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation
Publication Type:Journal Article
Source:Indian Journal of Pediatrics, p.1-3 (2013)
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
Cite this Research Publication
Related Research Publications
- Acampomelic form of campomelic dysplasia with SOX9 missense mutation
- Jansen Metaphyseal Chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia.
- Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
- Nail-patella syndrome- A novel mutation in the LMX1B gene
- Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family