Specifically, exon 7 displayed a missense mutation in FGFR2 and exon 64 displayed a mutation in FBN1. Mutations in FGFR play pleiotropic roles in numerous syndromes including Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome and Pfeiffer syndrome [70–73]. Here, FBN1 is linked to Pfeiffer syndrome.