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African health sciences · Sep 2005
Case ReportsSubtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.
- Ali Al Kaissi, Farid Ben Chehida, Nabil Nassib, Hatem Safi, Mrad Djnziri, Maher Ben Ghachem, and Hassan Gharbi.
- Service d'Orthopedie Infantile, Hopital d'Enfants de Tunis. allawi.rem@planet.tn
- Afr Health Sci. 2005 Sep 1; 5 (3): 270275270-5.
AbstractWe 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.
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