Crooked fingers and sparse hair: An interesting case of trichorhinophalangeal syndrome type 1

Ramakrishna Narayanan, Srinivasa Chennareddy

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1 Citation (Scopus)

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.

Original languageEnglish
Article number146
JournalBMJ Case Reports
Volume2015
DOIs
Publication statusPublished - 27-01-2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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