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.
Copyright © 2011 Elsevier Masson SAS. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Brain / pathology
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DNA-Binding Proteins / genetics
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Female
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Finger Phalanges / pathology
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Fingers / abnormalities
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Fingers / pathology
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Hair Diseases / complications*
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Hair Diseases / diagnosis
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Hair Diseases / genetics
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Hair Diseases / pathology
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Heterozygote
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Humans
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Langer-Giedion Syndrome / complications*
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Langer-Giedion Syndrome / diagnosis
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Langer-Giedion Syndrome / genetics
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Langer-Giedion Syndrome / pathology
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Middle Aged
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Molecular Sequence Data
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Mutation / genetics
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Nervous System Diseases / etiology*
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Nervous System Diseases / pathology
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Nose / abnormalities
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Nose / pathology
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Phenotype
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Repressor Proteins
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Rheumatic Diseases / etiology*
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Rheumatic Diseases / pathology
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Sequence Alignment
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Transcription Factors / genetics
Substances
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DNA-Binding Proteins
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Repressor Proteins
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TRPS1 protein, human
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Transcription Factors
Supplementary concepts
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Trichorhinophalangeal Syndrome, Type I