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Familial macrocephaly — RACP Paediatrics MCQ

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EasyNeurologyFamilial macrocephalyRACP Paediatrics

An 8-month-old has a head circumference crossing centiles (from 75th to >97th centile). The anterior fontanelle is soft and flat. Development is normal. The father has a large head (OFC >97th centile). Examination is normal. What is the most likely diagnosis?

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Correct answer: B — Familial (benign) macrocephaly

A well infant with increasing head circumference, normal development, soft fontanelle, and a parent with macrocephaly most likely has familial (benign) macrocephaly. This is the most common cause of macrocephaly and is a normal variant. If the fontanelle is soft, the infant is developing normally, and there is a positive family history, no imaging is required. However, if there are any concerns, cranial ultrasound can be performed.

Reference: RCH Melbourne – 2023 – Macrocephaly CPG; RACP Paediatric Curriculum – Neurology