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African Health Sciences
Makerere University Medical School
ISSN: 1680-6905
EISSN: 1729-0503
Vol. 5, No. 3, 2005, pp. 270-275
Bioline Code: hs05046
Full paper language: English
Document type: Research Article
Document available free of charge

African Health Sciences, Vol. 5, No. 3, 2005, pp. 270-275

 en Subtotal Amelia in a Child with Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Kaissi, Ali Al; Chehida, Farid Ben; Nassib, Nabil; Safi, Hatem; Djnziri, Mrad; Ghachem, Maher Ben & Gharbi, Hassan

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

 
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