All issues > Volume 41(12); 1998

Case Report

J Korean Pediatr Soc. 1998;41(12):1717-1721. Published online December 15, 1998.

A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome

Seon Chan SC Bae¹, Eun Ha EH Lee¹, Moon Sung MS Park¹, Si Houn SH Hah¹, Chang Ho CH Hong¹

¹Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea

Correspondence Si Houn SH Hah ,Email: 1

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 Ⅲc 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.

Keywords :Crouzon syndrome, Fibroblast growth factor receptor 2 gene(FGFR2), Jackson-Weiss syndrome, Cys342Ser mutation