Case Reports
Suraj Wasudeo Nagre
Abstract
Ellis Van Creveld Syndrome [EVC] is a rare genetic disorder also as called chondroectodermal dysplasia. It has autosomal recessive inheritance caused by mutation in the EVC gene located on the short arm of chromosome 4. It mainly consists of four components-Chondro dysplasia in the form of dwarfism, ectodermal dysplasia mainly in teeth and nail, polydactyly and congenital heart disease. It is commonly seen in the the Amish population of Pennsylvania in USA but also occur in non Amish population with the prevalence around 7/1,000,000 live births. Here we report a case of 15 year old Indian female born to a consanguineous marriage with the classical features of Ellis Van Creveld Syndrome diagnosed with a partial AV canal defect having a relatively asymptomatic childhood . A Partial AV canal defect is an uncommon cardiac malformation, and yet it is commonly found in patients with the EVC. We operated on her with septal patching and anterior mitral leaflet cleft repair with smooth recovery.