Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
An infant with a large head (2.5 SDs above normal for weight and gender or above 99.6th centile for age) is a common clinical presentation. Usually, it is due to benign isolated macrocephaly or familial macrocephaly (FM) where some close family members are similarly affected1; neither condition requires any further intervention. However, there are a few important underlying causes the clinician needs to actively consider and investigate when indicated before reassuring parents. These considerations include whether there is any associated developmental disorder or suggestion of a syndromic association or evidence of raised intracranial pressure (ICP).
In most instances, a careful history and examination either clarifies the diagnosis; for example, an ex-preterm child developing hydrocephalus. In other instances, it provides pointers for further investigation and management, for example, arranging genetic tests in a child presenting with macrocephaly and multiple cafe au lait spots suggesting the possible diagnosis of neurofibromatosis (NF) Type 1.
The following considerations are helpful.
Is the head …