Thalidomide embryopathy — RACP Paediatrics MCQ

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ModerateGeneticsThalidomide embryopathyRACP Paediatrics

A newborn has phocomelia (absent/shortened upper limb long bones). Mother took thalidomide in early pregnancy. What is the diagnosis?

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Correct answer: D — Thalidomide embryopathy

Thalidomide: limb reduction defects (phocomelia/amelia). Upper limbs more severely affected. Critical period days 20-36. Strict pregnancy prevention programmes.

Reference: RACP Paediatric Curriculum – Genetics