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- Title
Ellis-van Creveld syndrome with facial hemiatrophy.
- Authors
Bhat, Yasmeen J; Baba, Asif Nazir; Manzoor, Sheikh; Qayoom, Seema; Javed, Sheikh; Ajaz, Hakeem
- Abstract
Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.
- Publication
Indian journal of dermatology, venereology and leprology, 2010, Vol 76, Issue 3, p266
- ISSN
0973-3922
- Publication type
Journal Article
- DOI
10.4103/0378-6323.62968