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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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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