Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.
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 manifestations, and malformations of the heart in 50% of the living affected.
D001938:Brazil; D003241:Consanguinity; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype