A distinct type of hidrotic ectodermal dysplasia
- 15 March 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (4) , 552-556
- https://doi.org/10.1002/ajmg.1320380411
Abstract
Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, on‐ychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation. Additional variable manifestations included irregular menses, high implanted or prominent ears, café‐au‐lait spot, keratosis pilaris, supernumerary nipple, and mild hearing loss. Their previously undescribed condition could be classified as an ED of 1–3 (trichoonychial) subgroup of group A according to Freire‐Maia's classification and is inherited as an autosomal recessive trait.Keywords
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