Crouzon 증후군 환자의 증례보고

Abstract

Crouzon syndrome is a rare disease, first decribed by Crouzon in 1912. This syndrome is cuased by mutations in the FGFR2 gene, which is mapped to chromosome locus 10q25-10q26. The condition occurs in about 1 of every 25,000 birth and is inherited as an autosomal dominant trait. We experienced a case of Crouzon's disease in a 9-year-old-female child. Physical examination revealed craniosynostosis, hypertelorism, exophthalmos, hypoplastic maxilla and a relative mandibular prognathism. The purpose of this study is to report the dental and medical characteristics of the patient and review the literatures of Crouzon syndrome.