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Objective   FOXG 1 syndrome is a rare neurodevelopmental disorder associated with heterozygous   FOXG 1  variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.    Methods  We compiled 34 patients with a heterozygous (likely) pathogenic   FOXG 1  variant. Qualitative assessment of cerebral anomalies was performed by standardized re‐analysis of all 34  MRI  data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult  Foxg1 +/− mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies.    Results  Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner  CSF  spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in  FOXG 1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of  Foxg1  heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix.    Interpretation  Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for  FOXG 1 syndrome.

Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice