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Thalidomide embryopathy — RACP Paediatrics MCQ

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ModerateGeneticsThalidomide embryopathyRACP Paediatrics

A newborn has limb reduction defects (phocomelia), with absent or shortened long bones of the upper limbs. Internal organ abnormalities include cardiac and GI malformations. The mother took thalidomide during early pregnancy for an autoimmune condition. What is the most likely diagnosis?

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Correct answer: E — Thalidomide embryopathy

Thalidomide embryopathy is characterised by limb reduction defects (phocomelia/amelia), with upper limbs more severely affected. The critical exposure period is days 20-36 post-conception. Internal organ abnormalities (cardiac, GI, renal) and ear abnormalities also occur. Thalidomide is now used for some haematological and dermatological conditions with strict pregnancy prevention programmes.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023