title: Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.
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.
authors.affiliation: Service d'Orthopedie Infantile, Hopital d'Enfants de Tunis. allawi.rem@planet.tn
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Farid
authors.initials: F
authors.lastname: Ben Chehida
authors.forename: Nabil
authors.initials: N
authors.lastname: Nassib
authors.forename: Hatem
authors.initials: H
authors.lastname: Safi
authors.forename: Mrad
authors.initials: M
authors.lastname: Djnziri
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Hassan
authors.initials: H
authors.lastname: Gharbi
mesh_terms: D002648:Child; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics* / Q000503:physiopathology; D004480:Ectromelia / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000503:physiopathology*; D006801:Humans; D008297:Male; D014416:Tunisia