The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).
A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60--80 dB hearing loss). The genetic aspects of the syndrome are discussed.
D000015:Abnormalities, Multiple; D000293:Adolescent; D003638:Deafness / Q000150:complications; D002658:Developmental Disabilities; D004838:Epiphyses / Q000002:abnormalities*; D005097:Exostoses, Multiple Hereditary / Q000150:complications; D005145:Face / Q000002:abnormalities*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D013577:Syndrome