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
- KMID: 2073610
- DOI: http://doi.org/10.3345/kjp.2010.53.7.774
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of FGFR2 Exon lllc Mutation in Crouzon Syndrome
- Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2
- Apert and Pfeiffer Syndromes: A Report of Two Cases
- A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII
- Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly
