Mutations in different types of fibroblastic growth factor receptors (FGFRs) have been associated with a variety of phenotype abnormalities, the common ones being Apert, Crouzon and Pfeiffer syndromes. In this study, we present two representative cases having the Apert and Pfeiffer syndromes, respectively, and discuss their clinical presentation, sequel and surgical implications.
Keywords: Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; craniofacial; craniosynostosis; fibroblastic growth factor receptor.