Marfan Syndrome — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGenetics & MetabolicMarfan SyndromeRACP Paediatrics

A 14-year-old has tall stature, arachnodactyly, pectus excavatum, high-arched palate, dilated aortic root (Z-score 3.5). Father had aortic surgery. Diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Marfan syndrome

Marfan: FBN1 mutation, autosomal dominant. Aortic root monitoring essential.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics