Abstract
Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands.
2015 BMJ Publishing Group Ltd.
MeSH terms
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Arthritis, Rheumatoid / diagnosis*
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Diagnosis, Differential
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Disease Progression
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Fingers / abnormalities*
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Fingers / diagnostic imaging
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Hair Diseases / diagnosis*
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Hair Diseases / diagnostic imaging
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Hair Diseases / rehabilitation
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Humans
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Langer-Giedion Syndrome / diagnosis*
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Langer-Giedion Syndrome / diagnostic imaging
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Langer-Giedion Syndrome / rehabilitation
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Male
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Nose / abnormalities*
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Nose / diagnostic imaging
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Occupational Therapy
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Radiography
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Toes / abnormalities
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Young Adult
Supplementary concepts
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Trichorhinophalangeal Syndrome, Type I