Author(s): da Silva EO, Janovitz D, de Albuquerque SC
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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.
This article was published in J Med Genet
and referenced in Internal Medicine: Open Access