[The tricho-rhino-phalangeal syndrome (author's transl)].
In a family 4 cases of the tricho-rhino-phalangeal sydrome are observed. The sparse hair and early baldness, the pearshaped nose, and the peripheral dysostosis are typical in the appearance of these patients. Congenital heart leasions and kidney disease, as in one of out patients, might be associated with the tricho-rhino-phalangeal syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000505:Alopecia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome
Das Tricho-Rhino-Phalangeale Syndrom.