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Tricho-rhino-phalangeal syndrome

โœ Scribed by Naoki Fukushima; Michiya Anakura; Shinichiro Arashima; Ichiro Matsuda; Tadashi Ohsawa

Book ID
104707423
Publisher
Springer
Year
1976
Tongue
English
Weight
624 KB
Volume
32
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.

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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 i