Macrodactyly - Clinical Scenario

A 3-year-old presents with isolated macrodactyly of the right index finger. The case discusses history taking, aetiology involving a Pi3KCA gene mutation, necessary investigations, a treatment algorithm, and the role of medical treatments.
Macrodactyly - Clinical Scenario

Clinical Scenario

A family present to the congenital hand clinic with their 3-year-old son who has isolated overgrowth of the right index finger. The child is otherwise fit and well.

Objectives:
1. Take a history from the patient and family.
2. Describe the aetiology of macrodactyly to parents.
3. Request appropriate investigations.
4. Describe a treatment algorithm.
5. Outline the role of medical treatments in macrodactyly.

Primary Contributor: Dr Suzanne Thomson, Educational Fellow.
Reviewer: Dr Kurt Lee Chircop, Educational Fellow.

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