WORLD JOURNAL OF ADVANCE
HEALTHCARE RESEARCH

Akhil Mehrotra*, Faiz Illahi Siddiqui, Mohammad Shaban

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 12 year old Indian male with classical features of Ellis Van Creveld Syndrome accompanied by complex cardiac defects: common atrium, AV septal defect (AVSD), ventricular septal defect (VSD) and severe tricuspid regurgitation (TR). AV septal defect is an uncommon cardiac malformation, and yet it is commonly found in patients with the EVC.