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Case Reports
. 1980 Oct;17(5):349-56.
doi: 10.1136/jmg.17.5.349.

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

E O da Silva, D Janovitz, S C de Albuquerque
Case Reports

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

E O da Silva et al. J Med Genet. 1980 Oct.

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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