Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

A A Kaissi, F B Chehida, N Nassib, H Safi, M Djnziri, M B Ghachem, H Gharbi

Abstract

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.

Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears