Hairy throat: a dominant trait affecting seven members of a family.
Hypertrichosis was noted on a confined area of skin in the midline of the throat, just cranial to the laryngeal prominence, in three males and four females through three generations of a Japanese family. The proband, an 11-year-old girl, in addition had a 46 X,i(Xq) karyotype, short stature and other stigmata of the Turner syndrome. Her mother and one younger brother both had a hairy throat on examination. On the mother's side, the proband's grandmother, aunt, uncle and a male cousin, all reportedly had a hairy throat. No instance of male-to-male transmission was present. The trait was thus inherited as either an autosomal or X-linked dominant.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Yamaguchi-ken, Japan.
Kajii
T
T
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D007564:Japan; D008297:Male; D009333:Neck; D010375:Pedigree