Tricho-rhino-phalangeal syndrome type-1
โ Scribed by Madhulika; Mohnish Suri; Gurmeet Singh
- Book ID
- 112902708
- Publisher
- Springer-Verlag
- Year
- 1993
- Tongue
- English
- Weight
- 278 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0019-5456
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๐ SIMILAR VOLUMES
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.
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