Among the other features, craniosynostosis, a feature of our Case #3, was reported in some patients with CHD5 variants, whereas epilepsy, absent in our patient, was described in more than 60% of the reported cases [46], not allowing a final pathogenic imputation for the CDH5 variant in our patient and a phenotypic expansion of the syndrome. This evidence concerns the gene CHD5 and craniosynostosis.