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Case Report

A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome

Seon Chan Bae, Eun Ha Lee, Moon Sung Park, Si Houn Hah, Chang Ho Hong

Clin Exp Pediatr. 1998;41(12):1717-1721. Published online December 15, 1998

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...

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