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

Korean Association for Disability and Oral Health (대한장애인치과학회)
권호 표지
DOI QR코드

DOI QR Code

CARIES TREATMENT OF A 4-YEAR-OLD FEMALE PATIENT WITH DE GROUCHY SYNDROME UNDER GENERAL ANESTHESIA : A CASE REPORT

de Grouchy syndrome 환아의 전신마취 하 치아우식 치료 증례 보고

  • Song, Jisoo (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Lee, Euj-Ji (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Shin, Teo-Jeon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Hyun, Hong-Keun (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Jung-Wook (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Jang, Ki-Taeg (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Lee, Sang-Hoon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Chong-Chul (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Young-Jae (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
  • 송지수 (서울대학교 치의학대학원 소아치과학교실) ;
  • 이은지 (서울대학교 치의학대학원 소아치과학교실) ;
  • 신터전 (서울대학교 치의학대학원 소아치과학교실) ;
  • 현홍근 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김정욱 (서울대학교 치의학대학원 소아치과학교실) ;
  • 장기택 (서울대학교 치의학대학원 소아치과학교실) ;
  • 이상훈 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김종철 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김영재 (서울대학교 치의학대학원 소아치과학교실)
  • Received : 2013.06.05
  • Accepted : 2013.06.07
  • Published : 2013.06.28
Download PDF
⟨ Previous Next ⟩

Abstract

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

저자는 de Grouchy 증후군을 가진 4세 여자 환아에 대한 임상적 및 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 환아는 de Grouchy 증후군의 증상인 심장 및 발가락의 기형, 근긴장의 저하, 뇌량의 부분적인 무형성, 시각 장애와 청각 장애, 지적 능력의 저하, 성장 발달의 지연 등을 나타낸다. 2. 환아의 구강 및 두개악안면 소견으로 상악골 열성장과 전치부 반대교합을 보이며, 불량한 구강 위생으로 인한 다발성 치아우식증이 관찰된다. 3. 환아의 구강 위생 관리 및 치료 부위의 유지를 위하여 주기적인 치과 검진이 필요하며, 상악골 열성장과 전치부 반대교합을 개선하기 위해 추후 교정 치료가 필요할 수 있다.

Keywords

References

  1. De Grouchy J, Royer P, Salmon C, Lamy M : Deletion partielle du bras longs du chromosome 18. Path Biol (Paris) 12:579-582, 1964.
  2. Cody JD, Ghidoni PD, DuPont BR, et al. : Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am. J. Med. Genet. 85(5):455-62, 1999. https://doi.org/10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z
  3. Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT : Myelination in children with partial deletions of chromosome 18q. Am J Neuroradiol 26(3):447-54, 2005.
  4. Zavala J, Ramirez M, Medina R, et al. : Psychiatric syndromes in individuals with chromosome 18 abnormalities. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B(3):837-45, 2010.
  5. Semrud-Clikeman M, Thompson NM, Schaub BL, et al. : Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions. J Int Neuropsychol Soc 11(5):584-90, 2005.
  6. O'Donnell L, Soileau B, Heard P, et al.: Genetic determinants of autism in individuals with deletions of 18q. Hum. Genet. 128(2):155-64, 2010. https://doi.org/10.1007/s00439-010-0839-y
  7. J.D. Cody, P.D. Ghidoni, B.R. DuPont, D.E. Hale, S.G. Hilsenbeck, R.F. Stratton, D.S. Hoffman, S. Muller, R.L. Schaub, R.J. Leach, C.I. Kaye : Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet, 85:455-462, 1999. https://doi.org/10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z
  8. P. Versacci, M.C. Digilio, U. Sauer, B. Dallapiccola, B. Marino : Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome, Am J Med Genet. 138A:185-186, 2005. https://doi.org/10.1002/ajmg.a.30916
  9. Dorothee C. van Triera, Ilse Feenstrab,, Petra Bota, Nicole de Leeuwb, Jos M.Th. Draaismaa : Cardiac Anomalies in Individuals with the 18q Deletion Syndrome. Report of a Child with Ebstein Anomaly and Review of the Literature. Eur J Med Genet. May, 2013.
  10. Sylvie Di Filippo : Prophylaxis of infective endocarditis in patients with congenital heart disease in the context of recent modified guidelines Archives of Cardiovascular Disease. 105:454-460, 2012. https://doi.org/10.1016/j.acvd.2012.02.011
  11. Abraham et al. : Gromerular and interstial disease induced by nonsteroidal anti-inflammatory drugs. Am J Nephrol 4:1, 1984. https://doi.org/10.1159/000166764
  12. Oates et al : Clinical implications of prostaglandin and thromboxane A2 formation. N Engl J Med 319:791, 1988.
  13. Alper et al : Nephrotic syndrome and interstitial nephritis associated with celecoxib. Am J Kidney Dis 40:1086, 2002. https://doi.org/10.1053/ajkd.2002.36349