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Achondroplasia — RACP Paediatrics MCQ

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EasyGeneticsAchondroplasiaRACP Paediatrics

A child has disproportionate short stature with rhizomelic (proximal) limb shortening, macrocephaly with frontal bossing, and trident hands. Intelligence is normal. Both parents are of average height. What is the most likely diagnosis?

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Correct answer: D — Achondroplasia

Achondroplasia is the most common skeletal dysplasia (FGFR3 gain-of-function mutation, autosomal dominant, ~80% de novo). Rhizomelic limb shortening, macrocephaly with frontal bossing, trident hands, and normal intelligence are characteristic. Complications include foramen magnum stenosis, spinal stenosis, and recurrent otitis media.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023 – Short Stature CPG