Investigations
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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