Open AccessEllis-van Creveld syndromewith facial hemiatrophy
Author(s) -
Yasmeen Jabeen Bhat,
Asif Nazir Baba,
Sobia Manzoor,
Seema Qayoom,
Sheikh Javed,
Hakeem Ajaz
Publication year - 2010
Publication title -
indian journal of dermatology, venereology, and leprology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.514
H-Index - 45
eISSN - 0973-3922
pISSN - 0378-6323
DOI - 10.4103/0378-6323.62968
Subject(s) - polydactyly , medicine , ectodermal dysplasia , dysplasia , anatomy , congenital disorder , dermatology , pathology , surgery
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.