Chaisrisawadisuk S.Moore M.H.Mahidol University2023-06-182023-06-182022-06-01Cleft Palate-Craniofacial Journal Vol.59 No.6 (2022) , 817-82010556656https://repository.li.mahidol.ac.th/handle/20.500.14594/84443Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.DentistryArticleSCOPUS10.1177/105566562110285052-s2.0-851096496301545156934238036