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, onychodysplasia; 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.
[1]
M. Pinheiro,et al.
Ectodermal dysplasias--some recollections and a classification.
,
1988,
Birth defects original article series.
[2]
M. Pinheiro,et al.
Ectodermal dysplasias: A clinical and genetic study
,
1984
.
[3]
N. Freire‐Maia.
Ectodermal dysplasias revisited.
,
1977,
Acta geneticae medicae et gemellologiae.
[4]
V. D. Der Kaloustian,et al.
Congenital ectodermal dysplasia with hearing loss.
,
1970,
Archives of otolaryngology.
[5]
Clouston Hr.
THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA : (With an Autopsy and Biopsies on the Anhydrotic Type).
,
1939
.