Oorthuys J W, Beemer F A
Eur J Pediatr. 1979 Sep;132(1):55-9. doi: 10.1007/BF00443205.
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.
