A distinct type of hidrotic ectodermal dysplasia.
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.
Halal
F
F
Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
Setton
N
N
Wang
N S
NS
D002869:Chromosome Aberrations; D003878:Dermatoglyphics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree