CROUZON SYNDROME : CASE REPORT

Lee, Su-Jin; Kim, Young-Jae; Jang, Ki-Taek; Lee, Sang-Hoon; Kim, Chong-Chul; Hahn, Se-Hyun; Kim, Jung-Wook

Journal of the Korean Academy of Pediatric Dentistry 2009;36(1):133-138.
Published online February 28, 2009.

CROUZON SYNDROME : CASE REPORT

Su-Jin Lee, Young-Jae Kim, Ki-Taek Jang, Sang-Hoon Lee, Chong-Chul Kim, Se-Hyun Hahn, Jung-Wook Kim

Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University

Crouzon 증후군 환자의 증례보고

이수진, 김영재, 장기택, 이상훈, 김종철, 한세현, 김정욱

서울대학교 치과대학 소아치과학교실

Correspondence: Jung-Wook Kim, Tel: 02-2072-2639, Email: pedoman@snu.ac.kr

Received: 3 September 2008 • Accepted: 3 December 2008

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.

Key Words: Crouzon syndrome, Craniosynostosis, Maxillary hypoplasia, Hypertelorism, Exophthalmos