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Fetal alcohol syndrome — RACP Paediatrics MCQ

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EasyGeneticsFetal alcohol syndromeRACP Paediatrics

A newborn has microcephaly, smooth philtrum, thin vermilion border, and short palpebral fissures. The mother has a history of alcohol use disorder. There are cardiac defects (VSD) and mild developmental delay is noted later. What is the most likely diagnosis?

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Correct answer: A — Fetal alcohol spectrum disorder

The triad of growth restriction, characteristic facial features (smooth philtrum, thin upper lip, short palpebral fissures), and CNS dysfunction (microcephaly, developmental/intellectual disability, behavioural problems) with confirmed prenatal alcohol exposure is fetal alcohol syndrome (FAS), the most severe end of fetal alcohol spectrum disorder (FASD). No safe level of alcohol in pregnancy has been established.

Reference: RACP Paediatric Curriculum – Genetics/Neurodevelopment; Australian FASD Guidelines