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.

journal_name

Afr Health Sci

journal_title

African health sciences

authors

Al Kaissi A,Ben Chehida F,Nassib N,Safi H,Djnziri M,Ben Ghachem M,Gharbi H

doi

10.5555/afhs.2005.5.3.270

subject

Has Abstract

pub_date

2005-09-01 00:00:00

pages

270-5

issue

3

eissn

1680-6905

issn

1729-0503

journal_volume

5

pub_type

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