Micromelic dysplasia- congenital- with dislocation of radius

Overview

Borochowitz et al. (1991) described 2 pairs of sibs, offspring of consanguineous couples from an Arabic-Moslem kindred, who presented at birth with severe short-limb dwarfism and distinct facial and radiologic appearance similar to that of patients 4 and 5 of Maroteaux et al. (1989) in their report of an apparently autosomal dominant congenital bone disorder that they called omodysplasia (164745). Borochowitz et al. [1991a] reported four children from a consanguineous Arab family from Israel with this new bone dysplasia and pointed out two other cases from the literature. Amale child, product of consanguineous Baluchi parents, was diagnosed as having this rare bone dysplasia. A sib with similar features died at 15 days of age.