title: Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.
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.
authors.affiliation: Pôle des Neurosciences Cliniques, Groupe hospitalier Sud, CHU Bordeaux, Pessac, France.
authors.forename: Marjory
authors.initials: M
authors.lastname: Rué
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: Igor
authors.initials: I
authors.lastname: Sibon
authors.forename: Christophe
authors.initials: C
authors.lastname: Richez
authors.forename: Laurence
authors.initials: L
authors.lastname: Taine
authors.forename: Alexandra
authors.initials: A
authors.lastname: Foubert-Samier
authors.forename: Benoit
authors.initials: B
authors.lastname: Arveiler
authors.forename: Thierry
authors.initials: T
authors.lastname: Schaeverbeke
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: François
authors.initials: F
authors.lastname: Tison
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D050278:Finger Phalanges / Q000473:pathology; D005385:Fingers / Q000002:abnormalities / Q000473:pathology; D006201:Hair Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D009666:Nose / Q000002:abnormalities / Q000473:pathology; D010641:Phenotype; D012097:Repressor Proteins; D012216:Rheumatic Diseases / Q000209:etiology* / Q000473:pathology; D016415:Sequence Alignment; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors