Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5904926 | European Journal of Medical Genetics | 2011 | 4 Pages |
Abstract
Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset rheumatologic and neurological symptoms.
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Authors
Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, Christophe Richez, Laurence Taine, Alexandra Foubert-Samier, Benoit Arveiler, Thierry Schaeverbeke, Didier Lacombe, François Tison, Cyril Goizet,