Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the $FGFR2$ gene

  • Lee, Min-Young (Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital) ;
  • Jeon, Ga-Won (Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital) ;
  • Jung, Ji-Mi (Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital) ;
  • Sin, Jong-Beom (Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital)
  • Received : 2010.02.22
  • Accepted : 2010.05.18
  • Published : 2010.07.15
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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.

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References

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