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Down syndrome — RACP Paediatrics MCQ

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EasyGeneticsDown syndromeRACP Paediatrics

A newborn is noted to have upslanting palpebral fissures, epicanthic folds, a flat nasal bridge, Brushfield spots, a single palmar crease, sandal gap toes, and hypotonia. A cardiac murmur is heard. What is the most likely diagnosis?

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Correct answer: B — Down syndrome (trisomy 21)

The constellation of upslanting palpebral fissures, epicanthic folds, flat nasal bridge, Brushfield spots, single palmar crease, sandal gap, and hypotonia is characteristic of Down syndrome (trisomy 21). Cardiac defects occur in ~50% (most commonly AVSD, followed by VSD). Karyotype or chromosomal microarray confirms the diagnosis.

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023 – Down Syndrome CPG