Journal of Oral Health and Community Dentistry

Register      Login

VOLUME 8 , ISSUE 1 ( January-April, 2014 ) > List of Articles


Oral and Dental Findings of the Longest Surviving Patient with Hoyeraal-Hreidarsson Syndrome

AE Sekerci, Y Sisman, A Keskinrüzgar, E Unal, M Karakukcu, MA Ozdemir

Citation Information : Sekerci A, Sisman Y, Keskinrüzgar A, Unal E, Karakukcu M, Ozdemir M. Oral and Dental Findings of the Longest Surviving Patient with Hoyeraal-Hreidarsson Syndrome. J Oral Health Comm Dent 2014; 8 (1):65-69.

DOI: 10.5005/johcd-8-1-65

License: CC BY-NC 3.0

Published Online: 01-03-2012

Copyright Statement:  Copyright © 2014; The Author(s).


Hoyeraal-Hreidarsson syndrome (HHS) is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. Because HHS is a very rare disease and almost all cases die before 7 years of age, the dental development and dental findings of HHS patients are still not clear. According to our knowledge only twenty seven cases were reported up to now and we did not find any report focusing on the dental evaluation of HHS patients. Therefore, in this report, we aimed to present the dental findings of a twenty-year old patient with HHS.

PDF Share
  1. What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? Eur J Pediatr 1997;156:80–81.
  2. A case of Hoyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs. Neuropediatrics 2000;31:141-4.3:1–4
  3. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene. DKC1. J Haematol 1999;107:335–39.
  4. The Hoyeraal–Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth failure, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr 1995;154:304–08.
  5. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988;77:773–75.
  6. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002;359:2168–70.
  7. The longest surviving child with Hoyeraal–Hreidarsson syndrome. Haematologica 2004;89:ECR38.
  8. Inherited aplastic anaemia. Hematol J 2003;4:3–9.
  9. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19:32–38.
  10. An intronic mutation in DKC1 in an infant with Hoyeraal–Hreidarsson syndrome. Am J Med Genet A 2008;146A:2159–61.
  11. Advances in the understanding of dyskeratosis congenita. Br J Haematol 2009;145(2):164–72.
  12. , Eyaid, W, et al. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr 2000;136:390–393.
  13. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenital (DKC). Genet Couns 2001;12:129–36.
  14. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002;119:765–68.
  15. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 2003;162:863–67.
  16. Inherited bone marrow failure syndromes. In: Nathan D, Orkin SH, Ginsburg D, Look AT, eds. Hematology of infancy and childhood, 6th edn. Saınders: Philadelphia, PA, 2003:pp. 281–365.
  17. Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature. J Med Genet 1975;12:339–54.
  18. Dyskeratosis congenita in two male cousins. BrJOral Maxillofac Surg 1987;25:492–99.
  19. The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. Eur J Pediatr 1995;154:998.
  20. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet 2008;73:103–12.
  21. Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient. Pediatr Hematol Oncol 2003;20:651–56.
  22. Dyskeratosis congenita: report of a case. Int J Paediatr Dent 2000;10(4):328–34.
  23. Oral-dental findings in dyskeratosis congenita. J Oral Pathol Med 1992;21:280–84.
  24. Dyskeratosis congenita with associated periodontal disease. Oral Surg Oral Med Oral Pathol 1974;37:736–44.
  25. Cole-Engman syndrome associated with leukoplakia of the tongue: a case report. J Oral Maxillofac Surg 1999;57:1138–41.
  26. Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other diseases. Expert Rev Dermatol 2006;1:463–79.
  27. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970;59:185–91.
  28. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. Eur J Pediatr 1994;153:333–38.
  29. The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case. Eur J Pediatr 1997;156:818–20.
  30. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Neuropediatrics 1998;29:302–06.
  31. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. Pediatrics 2000;105:E39.
  32. Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome. Bone Marrow Transplant 2008;42(4):293–294.
  33. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1998;103(1):243–48.
  34. Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita. Br J Haematol 1996;92(3):758–65.
  35. Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient. Pediatr Hematol Oncol 2003;20(8):651–56.
  36. Dyskeratosis congenita. Oral Oncol 2006;42:331–36.
  37. Dyskeratosis congenita. Report of a case with literature review. Med Oral Patol Oral Cir Bucal 2007;12(5):E369–373.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.