The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II)

✍ Scribed by J. W. E. Oorthuys; F. A. Beemer

• Book ID: 104776322
• Publisher: Springer
• Year: 1979
• Tongue: English
• Weight: 628 KB
• Volume: 132
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00443205

✦ Synopsis

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.