Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. (original) (raw)
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 manifestations, and malformations of the heart in 50% of the living affected.
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