Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.
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.
Al Kaissi
Ali
A
Service d'Orthopedie Infantile, Hopital d'Enfants de Tunis. allawi.rem@planet.tn
Ben Chehida
Farid
F
Nassib
Nabil
N
Safi
Hatem
H
Djnziri
Mrad
M
Ben Ghachem
Maher
M
Gharbi
Hassan
H
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