Ellis –van – Creveld syndrome

Abstract

Ellis- van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia,polydactly , and congenital heart disease, that frequently presents with the single atrium defect. Chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are very rare. The reported case is a 2800 gr female neonate with polydactyly of fingers, short limbs, deformed chest, single atrium and cystic kidney.