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Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

Authors :
Rué M
Lüdecke HJ
Sibon I
Richez C
Taine L
Foubert-Samier A
Arveiler B
Schaeverbeke T
Lacombe D
Tison F
Goizet C
Source :
European journal of medical genetics [Eur J Med Genet] 2011 Jul-Aug; Vol. 54 (4), pp. e405-8. Date of Electronic Publication: 2011 Apr 15.
Publication Year :
2011

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.<br /> (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Details

Language :
English
ISSN :
1878-0849
Volume :
54
Issue :
4
Database :
MEDLINE
Journal :
European journal of medical genetics
Publication Type :
Academic Journal
Accession number :
21524721
Full Text :
https://doi.org/10.1016/j.ejmg.2011.04.001