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.