Achondroplasia — RACP Paediatrics MCQ

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EasyGenetics & MetabolicAchondroplasiaRACP Paediatrics

Newborn has short limbs, large head, frontal bossing, depressed nasal bridge, normal trunk, trident hand. Diagnosis?

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Correct answer: E — Achondroplasia

Achondroplasia: most common skeletal dysplasia. FGFR3 mutation. Autosomal dominant.

Reference: RACP – 2024 – Paediatric Curriculum: Clinical Genetics