A Case of FGFR2 Exon lllc Mutation in Crouzon Syndrome.
- Author:
Seon Chan BAE
1
;
Eun Ha LEE
;
Moon Sung PARK
;
Si Houn HAHN
;
Chang Ho HONG
Author Information
1. Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea.
- Publication Type:Case Report
- Keywords:
Crouzon syndrome;
Fibroblast growth factor receptor 2 gene (FGFR2);
Jackson- Weiss syndrome;
Cys342Ser mutation
- MeSH:
Acrocephalosyndactylia;
Child;
Craniofacial Dysostosis*;
Craniosynostoses;
Exons*;
Exophthalmos;
Humans;
Hypertelorism;
Population Characteristics;
Prognathism;
Receptor, Fibroblast Growth Factor, Type 2
- From:Journal of the Korean Pediatric Society
1998;41(12):1717-1721
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2 (FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she was found to have Cys342Ser mutation in FGFR2 exon lllc which has been previously observed in Jackson-Weiss syndrome. This finding supports the variable expression of FGFR2 in human and allelic heterogeneity in these apparently clinically distinct craniosynostotic conditions.
