title: A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.
abstract: Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.
authors.affiliation: Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea.
authors.forename: Min Young
authors.initials: MY
authors.lastname: Lee
authors.forename: Ga Won
authors.initials: GW
authors.lastname: Jeon
authors.forename: Ji Mi
authors.initials: JM
authors.lastname: Jung
authors.forename: Jong Beom
authors.initials: JB
authors.lastname: Sin