대한장애인치과학회지 (The Journal of Korea Assosiation for Disability and Oral Health)

  • 제13권2호
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  • Pages.104-107
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  • 2017
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  • 1738-8813(pISSN)
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  • 2287-7142(eISSN)
대한장애인치과학회 (Korean Association for Disability and Oral Health)
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가부키 증후군(Kabuki syndrome) 환자의 치과적 관리의 치험례

DENTAL MANAGEMENT OF A PATIENT WITH KABUKI SYNDROME : A CASE REPORT

  • 강힘찬 (경희대학교 치의학전문대학원 소아치과학교실) ;
  • 남옥형 (경희대학교 치의학전문대학원 소아치과학교실) ;
  • 김미선 (강동경희대학교 치과병원 소아치과) ;
  • 최성철 (경희대학교 치의학전문대학원 소아치과학교실) ;
  • 김광철 (강동경희대학교 치과병원 소아치과) ;
  • 이효설 (경희대학교 치의학전문대학원 소아치과학교실)
  • Kang, Him Chan (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Nam, Ok Hyung (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Kim, Mi Sun (Department of Pediatric Dentistry, Kyung Hee University Hospital at Gangdong) ;
  • Choi, Sung Chul (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Kim, Kwang Chul (Department of Pediatric Dentistry, Kyung Hee University Hospital at Gangdong) ;
  • Lee, Hyo-Seol (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University)
  • 투고 : 2017.06.16
  • 심사 : 2017.07.27
  • 발행 : 2017.12.30
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초록

본 증례는 가부키 증후군 환아의 상악 좌측 제2유구치의 심한 우식으로 인하여 좌측 협부 종창이 관찰되었고, 물리적 속박 하에 절개 및 배농술을 시행 후 유구치는 발거되었다. 이후 전신마취 하에 남은 우식치아의 치료가 진행되었다. 가부키 증후군은 환자에 따라 다양한 의학적 소견을 보이므로 전신마취 하 치과 치료가 계획 될 경우, 의과와의 협진 및 철저한 치료계획이 필수적이다.

Kabuki syndrome is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. A 6-year-old male with kabuki syndrome was referred from the local dental clinic for left facial swelling and dental caries on all primary molars. He was treated for acute periapical abscess with incision and drainage under physical restraint, and left maxillary second primary molar was extracted. Other caries treatment was performed under general anesthesia. As the syndrome involves many different medical problems, special cares should be considered. Dental treatment should be carried out in comprehensive consultation system.

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참고문헌

  1. Makrythanasis P, van Bon BW, Hoischen A, et al. : MLL2 mutation detected in 86 patients with Kabuki syndrome; a genotype-phenotype study. Clin Genet, 84:539-545, 2013. https://doi.org/10.1111/cge.12081
  2. Cheon CK, Ko JM : Kabuki syndrome: clinical and molecular characteristics. Korean J Pediatr, 58:317-324, 2015. https://doi.org/10.3345/kjp.2015.58.9.317
  3. Iida T, Park S, Kato K, Kitano I : Cleft palate in Kabuki syndrome: a report of six cases. Cleft Palate Craniofac J, 43:756-761, 2006. https://doi.org/10.1597/05-174
  4. Matsune K, Shimizu T, Maeda T, et al. : Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet, 98:185-190, 2001. https://doi.org/10.1002/1096-8628(20010115)98:2<185::AID-AJMG1029>3.0.CO;2-M
  5. Matsumoto N, Niikawa N : Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet, 117C:57-65, 2003. https://doi.org/10.1002/ajmg.c.10020
  6. Armstrong L, Abd El Moneim A, Allanson JE, et al. : Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A, 132A:265-272, 2005. https://doi.org/10.1002/ajmg.a.30340
  7. Schrander-Stumpel CT, Spruyt L, Schrander JJ, et al. : Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A, 132A:234-243, 2005. https://doi.org/10.1002/ajmg.a.30331
  8. Wilson GN : Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventative management. Am J Med Genet, 79:112-120, 1998. https://doi.org/10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S
  9. Hannibal MC, Buckingham KJ, Bamshad MJ, et al. : Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A, 155A:1511-1516, 2011.
  10. Li Y, Bogershausen N, Wollnik B, et al. : A mutation screen in patients with Kabuki syndrome. Hum Genet, 130:715-724, 2011. https://doi.org/10.1007/s00439-011-1004-y
  11. Micale L, Augello B, Merla G, et al. : Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients. Orphanet J Rare Dis, 6:38, 2011. https://doi.org/10.1186/1750-1172-6-38
  12. Paulussen AD, Stegmann AP, Schrander-Stumpel CT, et al. : MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat, 32:E2018-2025, 2011. https://doi.org/10.1002/humu.21416
  13. Banka S, Veeramachaneni R, Donnai D, et al. : How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review, and analyses of mutation and phenotypic spectrum. Eur J Hum Genet, 20:381-388, 2012. https://doi.org/10.1038/ejhg.2011.220
  14. Miyake N, Mizuno S, Matsumoto N, et al. : KDM6A point mutations cause Kabuki syndrome. Hum Mutat, 34:108-110, 2013. https://doi.org/10.1002/humu.22229
  15. Niikawa N, Kuroki Y, Reynolds JF, et al. : Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet, 31:565-589, 1988. https://doi.org/10.1002/ajmg.1320310312
  16. Kennedy DB, Turley PK : The clinical management of ectopically erupting first permanent molars. Am J Orthod Dentofacial Orthop, 92:336-345, 1987. https://doi.org/10.1016/0889-5406(87)90335-0