Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
- 1 April 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (2) , 136-141
- https://doi.org/10.1136/jmg.13.2.136
Abstract
A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in 2 sisters born of consanguineous parents. In 1972 this same constellation of findings was 1st 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.This publication has 21 references indexed in Scilit:
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