Upper limb abnormalities in mosaic trisomy 8 syndrome
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Published on: February 3, 2012
F Alvi1, A Alonso, A F M Brewood
1alvi@btinternet.com
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.
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