Cornelia de Lange 증후군 환아의 구내증상과 치과치료: 증례보고

  • Received : 2010.10.05
  • Accepted : 2010.12.15
  • Published : 2011.02.28


Cornelia de Lange syndrome(CdLS) is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major malformations, and behavioral abnormalities. Dental issues include micrognathia, crowding of teeth, small teeth, absent teeth, poor oral hygiene, and periodontal disease. We present a case of CdLS in a 10-year-old girl. Micrognathia, crowding of teeth, and bifid uvula are the characteristic features of this case. Dental treatments for this child including preventive and restorative procedures were performed under outpatient general anesthesia.


Cornelia de Lange syndrome;Dental problem;General anesthesia


  1. Kline AD, Krantz ID, Sommer A, et al. : Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A, 143A:1287-1296, 2007.
  2. Grau Carbo J, Lopez Jimenez J, Gimenez Prats MJ, et al. : Cornelia de Lange syndrome: a case report. Med Oral Patol Oral Cir Bucal, 12:445-448, 2007.
  3. Kline AD, Grados M, Sponseller P, et al. : Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet, 145C:248-260, 2007.
  4. Allanson JE, Hennekam RC, Ireland M : De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet, 34:645-650, 1997.
  5. Van Allen MI, Filippi G, Siegel-Bartelt J, et al. : Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet, 47:947-958, 1993.
  6. Preus M, Rex AP : Definition and diagnosis of the Brachmann-De Lange syndrome. Am J Med Genet, 16:301-312, 1983.
  7. Uzun H, Senses DA, Uluba M, et al. : A newborn with Cornelia de Lange syndrome: a case report. Cases J, 1:329, 2008.
  8. Liu J, Krantz ID : Cohesin and human disease. Annu Rev Genomics Hum Genet, 9:303-320, 2008.
  9. Dorsett D, Krantz ID : On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci, 1151:22-37, 2009.
  10. Toker AS, Ay S, Yeler H, et al. : Dental findings in Cornelia de Lange syndrome. Yonsei Med J, 50:289-292, 2009.
  11. Waage NS, Baker S, Sedano HO : Pediatric conditions associated with compromised airway: part I-congenital. Pediatr Dent, 31:236-248, 2009.
  12. Del Gaudio A, Varano L, Perrotta F, et al. : Tetraplegia and respiratory failure following mild cervical trauma in a child with Cornelia De Lange syndrome. Minerva Anestesiol, 75:169-170, 2009.
  13. Torres MD, Calvo E, Ferna′ndez Espla F, et al. : Anesthetic management of an adult patient with Cornelia de Lange Syndrome. Minerva Anestesiol, 76:229-231, 2010.
  14. Calnan J : Submucous cleft palate. Br J Plast Surg, 6:264-282, 1954.
  15. Shprintzen RJ, Schwartz RH, Daniller A, et al. : Morphologic significance of bifid uvula. Pediatrics, 75:553-561, 1985.
  16. Vilacosta I, Cañadas Godoy V : Bifid uvula and aortic aneurysm. N Engl J Med, 359:2, 2008.
  17. Jackson L, Kline AD, Barr MA, et al. : de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet, 47:940-946, 1993.
  18. Suryadevara AC, Tatum SA : Floating the uvula: an intraoperative method for detecting bifidity. Int J Pediatr Otorhinolaryngol, 71:175-177, 2007.
  19. Kim J, Kim EY, Lee JS, et al. : Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol, 29:569-573, 2008.