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

Eur J Pediatr. 1979 Sep;132(1):55-9. doi: 10.1007/BF00443205.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Deafness / complications
  • Developmental Disabilities
  • Epiphyses / abnormalities*
  • Exostoses, Multiple Hereditary / complications
  • Face / abnormalities*
  • Female
  • Hair / abnormalities*
  • Humans
  • Syndrome