Beckwith-Wiedemann Features — RACP Paediatrics MCQ

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ModerateEndocrinologyBeckwith-Wiedemann FeaturesRACP Paediatrics

Newborn: macroglossia, omphalocele, ear creases, hemihypertrophy, hypoglycaemia. Diagnosis?

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Correct answer: E — Beckwith-Wiedemann syndrome

BWS: 11p15.5 imprinting abnormality. Screen for Wilms/hepatoblastoma with USS.

Reference: RACP – 2024