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Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.
- 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.)
- Subjects :
- Base Sequence
Brain pathology
DNA-Binding Proteins genetics
Female
Finger Phalanges pathology
Fingers abnormalities
Fingers pathology
Hair Diseases diagnosis
Hair Diseases genetics
Hair Diseases pathology
Heterozygote
Humans
Langer-Giedion Syndrome diagnosis
Langer-Giedion Syndrome genetics
Langer-Giedion Syndrome pathology
Middle Aged
Molecular Sequence Data
Mutation genetics
Nervous System Diseases pathology
Nose abnormalities
Nose pathology
Phenotype
Repressor Proteins
Rheumatic Diseases pathology
Sequence Alignment
Transcription Factors genetics
Hair Diseases complications
Langer-Giedion Syndrome complications
Nervous System Diseases etiology
Rheumatic Diseases etiology
Subjects
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