ArticleCureus2026
Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Macrocephaly may be the presenting feature of underlying genetic conditions in childhood. We report a five-year-old boy with persistent macrocephaly above +3 standard deviations since infancy and subtle facial dysmorphisms. Neurological examination revealed hypotonia, a wide-based gait, and fine and gross motor difficulties. Developmental assessment confirmed psychomotor delay without features of autism spectrum disorder. Brain MRI revealed multiple enlarged perivascular spaces involving the bilateral subcortical white matter and the corpus callosum, as well as callosal thickening. Genetic testing identified a heterozygous likely pathogenic variant in the PTEN gene, with maternal transmission confirmed on familial testing. Timely genetic diagnosis allows appropriate genetic counselling and clinical follow-up.
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Registered trials
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