Furthermore, based on the clinical information provided, previously performed analyses for the family members, the information available for the variants and the features described for FREM1-related trigonocephaly type 2, we conclude that the variants c.4023C>G p.(Cys1341Trp) and c.4789G>T p.(Asp1597Tyr) are in cis and likely segregate with the craniosynostosis phenotype in this family. This evidence concerns the gene FREM1 and trigonocephaly 2.