Korean J Pediatr.  2010 Jul;53(7):774-777. 10.3345/kjp.2010.53.7.774.

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

Affiliations
  • 1Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea. pedsin@inje.ac.kr

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.

Keyword

Craniosynostosis; Fibroblast growth factor receptor 2; Acrocephalosyndactylia

MeSH Terms

Acrocephalosyndactylia
Craniosynostoses
Live Birth
Molecular Biology
Receptor, Fibroblast Growth Factor, Type 1
Receptor, Fibroblast Growth Factor, Type 2
Thumb
Toes
Receptor, Fibroblast Growth Factor, Type 1
Receptor, Fibroblast Growth Factor, Type 2
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