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CASE REPORT
Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1
  1. Ramakrishna Narayanan1,
  2. Srinivasa Chennareddy2
  1. 1Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Udupi, Karnataka, India
  2. 2Department of Rheumatology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
  1. Correspondence to Ramakrishna Narayanan, drrkris{at}gmail.com

Summary

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.

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