Tricho-rhino-phalangeal syndrome type I in a Japanese boy.
D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007564:Japan; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D018570:Risk Assessment; D012720:Severity of Illness Index