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.
References
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Address for offrint requests: Department of Pediatrics, University Hospital of Amsterdam, Binnengasthuis, Grimburgwal 10, 1012 GA Amsterdam, The Netherlands
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Oorthuys, J.W.E., Beemer, F.A. The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II). Eur J Pediatr 132, 55–59 (1979). https://doi.org/10.1007/BF00443205
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DOI: https://doi.org/10.1007/BF00443205