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VOLUME 10 , ISSUE 1 ( January, 2009 ) > List of Articles


Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases

Wilson Denis Martins, Marina de Oliveira Ribas, Guilherme Martins, Maria Helena de Sousa, Ana Claudia Galvão de Aguiar Koubik, Lucia Fåtima Castro Åvila, Fernando Luis Zanferrari

Citation Information : Martins WD, de Oliveira Ribas M, Martins G, de Sousa MH, de Aguiar Koubik AC, Åvila LF, Zanferrari FL. Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases. J Contemp Dent Pract 2009; 10 (1):82-90.

DOI: 10.5005/jcdp-10-1-82

License: CC BY-NC 3.0

Published Online: 01-12-2010

Copyright Statement:  Copyright © 2009; The Author(s).



The aim of this case report is to emphasize the importance of an early diagnosis of Gardner's syndrome through the detection of lesions appearing in the oral and maxillofacial area as well as to present two cases of the disease.


Gardner's syndrome is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine, along with multiple osteomas, skin, and soft tissue tumors. Cutaneous findings may include desmoid tumors, epidermoid cysts, and other benign tumors. Early diagnosis and therapy of the disease are critical because polyps have a 100% risk of undergoing malignant transformation. Craniomaxillofacial manifestations (osteoma formation, tooth impaction, diffuse opacities in the skull, mandible and maxilla, scalp tumors) usually precede polyposis.


Case 1: Gardner's syndrome was diagnosed in a 25-year-old Caucasian man who was referred by his endodontist for evaluation of an uncommon radiographic image in the mandibular molar area. Further investigation revealed a familial adenomatous polyposis (FAP) complicated by adenocarcinoma of the colon. A colectomy and an ileorectal anastomosis were performed. Case 2: A 12-year-old Caucasian girl, who is a niece of the patient described in Case 1, presented with progressive difficulty with mouth opening but no complaints of digestive problems. Radiographic examination revealed multiple radiopacities in the maxilla, mandible left temporomandibular joint, and in the left mandibular angle. Multiple impacted teeth were present. A colonoscopy was suggested, but the patient's parents decided to continue the investigation and treatment with their own physician in their home town.


Since an early diagnosis is essential and general dental practitioners may be the first healthcare professionals to suspect the diagnosis, it is important for them to be familiar with the features of Gardner's syndrome.


de Oliveira Ribas M, Martins WD, de Sousa MH, de Aguiar Koubik ACG, Ávila LFC, Zanferrari FL, Martins G. Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases. J Contemp Dent Pract 2009 January; (10)1:082-090.

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  1. Cancer and heredity. Lancet 1925;427-429.
  2. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet 1951; 3:167-176.
  3. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary poluposis and osteomatosis. Am J Hum Genet 1953; 5:139-148.
  4. Familial adenomatous polypisis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genetics 2006;140A:200-204.
  5. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med 1987; 316:661-667.
  6. Desmoid tumors in familiar polyposis coli. Ann Surg 1986; 204;94-97.
  7. Gastroduodenal polyps in familial adenomatous and juvenile polyposis. Endoscopy 1986; 18:230-234.
  8. Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet 1988; 1:1149-1151.
  9. Biliary neoplasia in Gardner's syndrome. Arch Patol Lab Med 1987; 111;76-77.
  10. Hepatoblastoma and familial adenomatous polyposis. J Natl Cancer Inst 1988; 80:1626-1628.
  11. Dental anomalies in familial pólyposis coli. Acta Odontol Scand 1987,45:61-63.
  12. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 1959,2:465-468.
  13. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma: a case report and review of the literature. Dig Diseases Scienc 1993;38-185-190.
  14. Familial adenomatous polyposis. Ann Med 1989; 21:299-307.
  15. The protean manifestations of familial polyposis coli. Dis Colon Rectum 1988; 9:699-703.
  16. Gardner's syndrome: a case report. Brit Dent J 2006; 200:666-667.
  17. Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Dis 2007; 13:360-365.
  18. Natural course of jaw lesions in patients with familial adenomatosis coli (Gardner's syndrome). Int J Oral Maxillofac Surg 1993; 22:226-30.
  19. Hereditary familial polypisis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description. Med Oral Patol Oral Cir Bucal 2005; 10:402-429.
  20. Oral and maxillofacial manifestations of familial adenomatosis polyposis. Gardner's syndrome. Ned Tijdschr Tandheelkd 2005; 112:340-344.
  21. Gardner's syndrome – a case report. Brit Dent J 2002; 2002 193:383-384.
  22. Gardner's syndrome: a case report and review of the literature. World J Gastroenterol 2005; 11:5408-5411.
  23. J Eur Acad Dermatol Venereol 1999; 12:80-81.
  24. Gardner's syndrome. Dermatol Clin 1995; 13:51-56.
  25. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist 1995;3.153-167.
  26. Benign osteoma with Gardner syndrome. Review of the literature and report of a case. J Craniofa Surg 2004; 15:506-509.
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