Title of article
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia
Author/Authors
Al Kaissi, Ali Hopital d’Enfants - Service d’Orthopedie Infantile, Tunisia , Ben Chehida, Farid Centre de Radiologie Ibn Zohr Tunis, Tunisia , Nassib, Nabil Hopital d’Enfants - Service d’Orthopedie Infantile, Tunisia , Djnziri, Hatem Safi1Mrad Hopital d’Enfants - Service d’Orthopedie Infantile, Tunisia , Ben Ghachem, Maher Hopital d’Enfants - Service d’Orthopedie Infantile, Tunisia , Gharbi, Hassan Centre de Radiologie Ibn Zohr Tunis, Tunisia
From page
270
To page
275
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
Journal title
African Health Sciences
Journal title
African Health Sciences
Record number
2633363
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