대한소아치과학회지 (Journal of the korean academy of Pediatric Dentistry)

  • 제36권1호
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  • Pages.133-138
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  • 2009
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  • 1226-8496(pISSN)
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  • 2288-3819(eISSN)
대한소아치과학회 (Korean Academy of Pediatric Dentistry)
권호 표지

Crouzon 증후군 환자의 증례보고

CROUZON SYNDROME : CASE REPORT

  • 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)
  • 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)
  • 발행 : 2009.02.27
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초록

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.

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.

키워드

참고문헌

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