Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

Eur J Med Genet. 2011 Jul-Aug;54(4):e405-8. doi: 10.1016/j.ejmg.2011.04.001. Epub 2011 Apr 15.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Brain / pathology
  • DNA-Binding Proteins / genetics
  • Female
  • Finger Phalanges / pathology
  • Fingers / abnormalities
  • Fingers / pathology
  • Hair Diseases / complications*
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics
  • Hair Diseases / pathology
  • Heterozygote
  • Humans
  • Langer-Giedion Syndrome / complications*
  • Langer-Giedion Syndrome / diagnosis
  • Langer-Giedion Syndrome / genetics
  • Langer-Giedion Syndrome / pathology
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / pathology
  • Nose / abnormalities
  • Nose / pathology
  • Phenotype
  • Repressor Proteins
  • Rheumatic Diseases / etiology*
  • Rheumatic Diseases / pathology
  • Sequence Alignment
  • Transcription Factors / genetics

Substances

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

Supplementary concepts

  • Trichorhinophalangeal Syndrome, Type I