A familial case of trichorhinophalangeal syndrome type I

Pediatr Dermatol. 2009 Mar-Apr;26(2):171-5. doi: 10.1111/j.1525-1470.2009.00905.x.

Abstract

Trichorhinophalangeal type I (TRPS I) is a rare autosomal dominant disorder characterized by variable clinical expression of sparse and slow-growing hair, pear-shaped nose, elongated philtrum, and bone deformities, including cone-shaped epiphyses of the phalanges and short stature. We describe three members of a family who consulted us because of slow-growing scalp hair with craniofacial and radiological features typical of TRPS I.

Publication types

  • Case Reports

MeSH terms

  • Body Height / genetics
  • Child
  • Craniofacial Abnormalities / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Finger Phalanges / abnormalities*
  • Finger Phalanges / diagnostic imaging
  • Flatfoot / congenital
  • Flatfoot / genetics
  • Hair / abnormalities*
  • Humans
  • Male
  • Mutation, Missense*
  • Palate / abnormalities
  • Radiography
  • Repressor Proteins
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors