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How I explore... macrocephaly
Vanden Brande L , Alkan S , Barrea C , Leroy P
Rev Med Liege 2022, 77(1),56-62Abstract : Macrocephaly is a frequent reason for seeking advice in a pediatric neurology consultation. It is a non-specific neurological sign that can be isolated, be the sign of a serious acquired pathology or be part of a syndromic picture. Clinical history, physical examination and imaging are key elements of the diagnostic strategy. Signs of intracranial hypertension require an emergency work-up. Genetics, exome in particular, has enabled the characterization of various syndromes associating macrocephaly and neurodevelopmental delay. In this article, we propose an update of practices based on clinical signs.
