A Case Report of Late Survival in Ellis: Van Creveld Syndrome

Abstract

Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by chondro-dystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow thorax and congenital heart diseases complete the picture. The patients with the syndrome rarely survive into adulthood. Here, we report a lady with EVC presenting for the first time in middle age.