Ellis-van Creveld syndrome: Report of 15 cases in an inbred kindred

Abstract

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifesta- tions, and malformations of the heart in 50% of the living affected.