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Korean J Pediatr 2010 July;53(7) :774-777.
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Min Young Lee (Lee MY), Ga Won Jeon (Jeon GW), Ji Mi Jung (Jung JM), Jong Beom Sin (Sin JB)
Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea
Corresponding Author: Jong Beom Sin ,Email:
Copyright © 2010 by The Korean Pediatric Society
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.
Keywords: Craniosynostosis | Fibroblast growth factor receptor 2 | Acrocephalosyndactylia
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