Hypohidrotic ectodermal dysplasia with tibial aplasia.
We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.
Kaissi
Ali Al
AA
Department of Paediatric Orthopaedics, Hopital d'infants, Tunis.
Ghachem
Maher Ben
MB
Necib
Mohamed Nebil
MN
Chehida
Farid Ben
FB
Karoui
Hager
H
Baraitser
Michael
M
D002648:Child; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000473:pathology*; D008297:Male; D010375:Pedigree; D013977:Tibia / Q000002:abnormalities*