RECQL4 and craniosynostosis: Craniosynostosis is a distinctive sign of BGS as it has been reported in 82% (9/11) of BGS patients with RECQL4 alterations (4, 10–12, 32, 33) but in RBS with ESCO2 pathogenic variants only in the 2 patients herein described and in 2 patients of the literature, for whom no details or images are provided (29).