Beckwith-Wiedemann syndrome — RACP Paediatrics MCQ

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ModerateGeneticsBeckwith-Wiedemann syndromeRACP Paediatrics

A 3-month-old presents with macrosomia, macroglossia, hemihypertrophy, and an omphalocele. Abdominal ultrasound shows bilateral enlarged kidneys. The child is at increased risk of which tumour?

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Correct answer: E — Beckwith-Wiedemann syndrome

Macrosomia, macroglossia, omphalocele, and hemihypertrophy are features of Beckwith-Wiedemann syndrome (BWS, imprinting disorder at 11p15.5). There is an increased risk of embryonal tumours, particularly Wilms tumour (~5-7%) and hepatoblastoma. Regular tumour screening with abdominal ultrasound and alpha-fetoprotein is recommended until age 8.

Reference: RACP Paediatric Curriculum – Genetics/Oncology; RCH Melbourne – 2023 – BWS CPG