Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome

Abstract

A syndrome characterized by campodactyly, distinct facial features, multiple musculoskeletal defects, and unique dematoglyphic changes is described in 2 sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in 2 sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.