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Upper limb abnormalities in mosaic trisomy 8 syndrome
F Alvi1, A Alonso, A F M Brewood
1alvi@btinternet.com
Archives of Orthopaedic and Trauma Surgery
|September 15, 2004
Summary
This study details a rare case of mosaic trisomy 8 syndrome presenting with radial wrist deviation. Clinical correction was achieved using a wrist brace, highlighting a unique skeletal manifestation.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Trisomy 8 syndrome is characterized by skeletal abnormalities.
- Radiological findings are often more distinctive than clinical signs in trisomy 8 syndrome.
Observation:
- A male patient with mosaic trisomy 8 syndrome presented with radial deviation of the right wrist.
- Radiographs revealed an open ulna epiphysis and a closed radial epiphysis.
Findings:
- The radial deviation was attributed to the epiphyseal plate discrepancy.
- Surgical intervention was deferred due to the open ulna epiphysis.
Implications:
- This case represents the first documented instance of radial wrist deviation in mosaic trisomy 8.
- Non-surgical management with a wrist brace proved effective for clinical correction.