Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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CROUZON SYNDROME : CASE REPORT

Crouzon 증후군 환자의 증례보고

  • Lee, Su-Jin (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Young-Jae (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Jang, Ki-Taek (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Lee, Sang-Hoon (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Chong-Chul (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Hahn, Se-Hyun (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Jung-Wook (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University)
  • 이수진 (서울대학교 치과대학 소아치과학교실) ;
  • 김영재 (서울대학교 치과대학 소아치과학교실) ;
  • 장기택 (서울대학교 치과대학 소아치과학교실) ;
  • 이상훈 (서울대학교 치과대학 소아치과학교실) ;
  • 김종철 (서울대학교 치과대학 소아치과학교실) ;
  • 한세현 (서울대학교 치과대학 소아치과학교실) ;
  • 김정욱 (서울대학교 치과대학 소아치과학교실)
  • Published : 2009.02.27
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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.

Crouzon 증후군은 1912년 프랑스의 신경학자 Crouzon에 의해 처음 알려진 질환으로 10q25-10q26 염색체에 위치한 FGFR2 유전자의 돌연변이에 의해 발생되며 발생률은 25,000명당 1명 꼴로 상염색체 우성 유전 경향을 보이는 유전적 질환이다. 본 증례는 서울대학교 치과병원 소아치과에 내원한 9세의 Crouzon 증후군 환아에 대한 것으로 특징적으로 두개봉합이 조기에 폐쇄되는 두개골유합증(craniosynostosis)으로 인한 두개안면골 이상, 안구돌출증, 상악골 저성장 및 상대적인 하악전 돌증을 나타내었다. 이에 Crouzon 증후군의 의과 및 치과적 소견을 살펴보고, 이에 대해 과거의 문헌을 고찰하여 다소의 지견을 얻었기에 보고하는 바이다.

Keywords

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