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The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II) (1979)

Oorthuys, J. W. E. ; Beemer, F. A.

Springer

European journal of pediatrics 132 (1979), S. 55-59

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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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