2 research outputs found
Ellis-van Creveld syndrome with facial hemiatrophy
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