Tricho-rhino-phalangeal syndrome. The first case in Japan.
The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007564:Japan; D009667:Nose Deformities, Acquired / Q000175:diagnosis; D013577:Syndrome