A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.
10.3345/kjp.2010.53.7.774
- Author:
Min Young LEE
1
;
Ga Won JEON
;
Ji Mi JUNG
;
Jong Beom SIN
Author Information
1. Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea. pedsin@inje.ac.kr
- Publication Type:Case Report
- Keywords:
Craniosynostosis;
Fibroblast growth factor receptor 2;
Acrocephalosyndactylia
- MeSH:
Acrocephalosyndactylia;
Craniosynostoses;
Live Birth;
Molecular Biology;
Receptor, Fibroblast Growth Factor, Type 1;
Receptor, Fibroblast Growth Factor, Type 2;
Thumb;
Toes
- From:Korean Journal of Pediatrics
2010;53(7):774-777
- CountryRepublic of Korea
- Language:English
-
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.
