ISSN:
1432-1076
Keywords:
Langer-Giedion syndrome
;
Tricho-rhino-phalangeal syndrome, type II
;
Exostoses
;
Abnormal epiphyses
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhino-phalangeal 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00443205
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