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Investigations

Authoring team

The investigations for congenital upper limb anomalies include:

  • imaging:
    • plain X-rays are standard, however most bones may not have ossified in younger children
    • rarely, and dependent on the condition:
      • angiography
      • MRI
      • CT scanning
  • blood tests:
    • karyotyping or single gene analysis as dictated by clinical genetics
    • FBC; essential in cases of radial dysplasia where there may be occult thrombocytopaenia or pancytopaenia
  • clinical photography to document the extent of the initial deformity
  • video recording of function; useful for repeat analysis when clinic opportunities for observation may be fleeting

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