Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Jones J, Bell D, et al. Macrocephaly. Reference article, Radiopaedia.org (Accessed on 17 Mar 2025) https://doi.org/10.53347/rID-9170
Macrocephaly is a clinical and radiological term that refers to a generalized increase in the size of the cranial vault.
This slightly differs from the term megalencephaly which means an increase in the size of the brain parenchyma.
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In some individuals, a large head is normal or familial. However in others, it is related to a syndrome, and other features may be present (see a long list of causes below).
Etiology
In an infant it can result from a wide range of causes:
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Some define the condition on skull radiography when the head circumference is more than two standard deviations above the mean or exceeds the 97th percentile by at least 5 mm 4-7.
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1. Lynch N, Lynch S, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba Syndrome: A Cause of Extreme Macrocephaly and Neurodevelopmental Delay. Arch Dis Child. 2009;94(7):553-4. doi:10.1136/adc.2008.155663 - Pubmed
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2. Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases. Radiographics. 2008;28(4):1061-77. doi:10.1148/rg.284075122 - Pubmed
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3. Michel S & Given C. Case 99: Canavan Disease. Radiology. 2006;241(1):310-4. doi:10.1148/radiol.2411040165 - Pubmed
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4. Glass R, Fernbach S, Norton K, Choi P, Naidich T. The Infant Skull: A Vault of Information. Radiographics. 2004;24(2):507-22. doi:10.1148/rg.242035105 - Pubmed
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5. Seal A. Fifteen-Minute Consultation on the Infant with a Large Head. Arch Dis Child Educ Pract Ed. 2013;98(4):122-5. doi:10.1136/archdischild-2013-303910 - Pubmed
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6. Huang J, Sarma A, Little S, Pruthi S. Systematic Approach to Pediatric Macrocephaly. Radiographics. 2023;43(5):e220159. doi:10.1148/rg.220159 - Pubmed
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7. Orrù E, Calloni S, Tekes A, Huisman T, Soares B. The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings. AJR Am J Roentgenol. 2018;210(4):848-59. doi:10.2214/AJR.17.18693 - Pubmed
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