investigations

Last reviewed 01/2018

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