Investigations
The investigations in a patient presenting with thumb hypoplasia should largely be guided by clinical findings. A healthy adult patient with a mild deformity may warrant little more than plain radiography to examine the bones of the thumb. However, a newly-diagnosed infant with a congenital hypoplastic thumb may warrant:
- plain radiography:
- thumb
- carpus
- forearm
- elbow
- ECG: to help in screening for Holt-Oram syndrome
- FBC: for the associations with thrombocytopaenia and Fanconi's anaemia
- renal ultrasound scan: VATER association
A referral to clinical genetics may be warranted for further genetic testing.
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