title: A distinct type of hidrotic ectodermal dysplasia.
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, 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.
authors.affiliation: Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Halal
authors.forename: N
authors.initials: N
authors.lastname: Setton
authors.forename: N S
authors.initials: NS
authors.lastname: Wang
mesh_terms: 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