This is similar to what is observed in THOC2 patients5, and is in line with imaging findings in the THOC2 exon 37-38 deletion patient, which indicated moderate plagiocephaly and brachycephaly, but no ex-vacuo dilation of the lateral ventricles, no heterotopic grey matter and normal-appearing subcortical and brainstem structures. This evidence concerns the gene THOC2 and Brachycephaly.