Upper limb abnormalities in mosaic trisomy 8 syndrome

Arch Orthop Trauma Surg. 2004 Dec;124(10):718-9. doi: 10.1007/s00402-004-0736-8. Epub 2004 Sep 7.

Abstract

Introduction: Skeletal abnormalities are known to be a characteristic feature of the trisomy 8 syndrome, and radiological malformations are often more characteristic than the clinical features.

Case presentation: We report a mentally retarded male known to have mosaic trisomy 8 syndrome who presented with radial deviation of his right wrist. Radiographs showed an open ulna epiphysis with a closed radial epiphysis. Surgery was postponed until an older age as his ulna epiphysis had not yet closed, but clinical correction was achieved with a wrist brace.

Conclusion: This is the first report of radial deviation of the wrist in a patient with mosaic trisomy 8.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bones of Upper Extremity / abnormalities*
  • Chromosomes, Human, Pair 8*
  • Humans
  • Intellectual Disability*
  • Male
  • Mosaicism*
  • Syndrome
  • Trisomy*
  • Wrist Joint / abnormalities*