The American Journal of Digestive Diseases

, Volume 15, Issue 6, pp 551–568 | Cite as

Gardner's syndrome

A revisit to a previously described family
  • Robert D. Coli
  • Jeffery P. Moore
  • Paul H. La Marche
  • Frank G. DeLuca
  • Walter R. ThayerJr


The complete pedigree of the family with Gardner's syndrome, first reported by Weiner and Cooper, is presented and the natural history of this autosomal dominant disorder is reviewed. Two new cases were found among members of the third generation. Fifteen years after total colectomy, the only affected survivor from the second generation developed a metastasizing adenocarcinoma of the third portion of the duodenum. In addition to features of the classic triad, the dental abnormalities found in all affected survivors in this family appear to be a consistent manifestation of the syndrome. No structural or numerical chromosome abnormalities were found in karyotypes prepared from peripheral white blood cells, a mandibular osteoma or testicular cells. All affected individuals should be advised of the high risk of producing affected offspring. Careful evaluation of all family members at risk will allow identification of affected individuals long before intestinal symptoms develop and should permit appropriate surgical therapy before malignant degeneration of the colon can occur. Until the true incidence of malignancy in the retained rectum is established, subtotal colectomy with careful lifelong follow-up would appear to be the most acceptable therapy for Gardner's syndrome. Even total colectomy may not be curative, since the small bowel mucosa carries a small but definite premalignant potential.


Total Colectomy Subtotal Colectomy Testicular Cell Malignant Degeneration Classic Triad 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. 1.
    Gardner EJ, Stevens FE: Cancer of the lower digestive tract in one family group. Amer J Hum Genet 2:41, 1950Google Scholar
  2. 2.
    Gardner EJ: A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Amer J Hum Genet 3:167, 1951Google Scholar
  3. 3.
    Gardner EJ, Plenk HP: Hereditary patterns for multiple osteomas in a family group. Amer J Hum Genet 4:37, 1952Google Scholar
  4. 4.
    Gardner EJ, Richards RC: Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Amer J Hum Genet 5:139, 1953Google Scholar
  5. 5.
    Weiner RS, Cooper P: Multiple polyposis of the colon, osteomatosis, and soft tissue tumors: Report of familial syndrome. New Eng J Med 253:795, 1955Google Scholar
  6. 6.
    Devic A, Bussy: Un cas de polypose adenomateuse generalisee a tout l'intestin. Arch Mal App digest 6:278, 1912Google Scholar
  7. 7.
    Cabot RC: Case records of the Massachusetts General Hospital. Case No. 21061. New Eng J Med 212:263, 1935Google Scholar
  8. 8.
    Fitzgerald GM: Multiple composite odontomas coincidental with other tumorous conditions: Report of a case. J Amer Dent Ass 30:1408, 1943Google Scholar
  9. 9.
    Colcock BP, Zomorodian AA: Gardner's Syndrome: Multiple polyposis of colon, bone tumors, and soft tissue tumors. Postgrad Med 40:29, 1966Google Scholar
  10. 10.
    Jones EJ, Cornell WP: Gardner's syndrome: Review of the literature and report of a family. Arch Surg 92:287, 1966Google Scholar
  11. 11.
    Earley CM, Jr, Martens AJ: Adenomatosis of the colon associated with sebaceous cysts, osteomas, and fibrous tumors. Dis Colon Rectum 9:33, 1966Google Scholar
  12. 12.
    Delaney TJ, Findlay JM, Haggert BG: A case of Gardner's Syndrome. Brit J Surg 53:826, 1966Google Scholar
  13. 13.
    Shiffman MA: Familial multiple polyposis associated with soft-tissue and hard-tissue tumors. JAMA 179:514, 1962Google Scholar
  14. 14.
    McCaughan JS, Soder PD, Biddle LR: Gardner's Syndrome: Report of two unrelated cases and discussion of management of the disease. Dis Colon Rectum 9:286, 1966Google Scholar
  15. 15.
    Lazar HP, Crow NS, Brogdon BG: External manifestations of multiple polyposis: Report of a case with negative family history. Arch Intern Med 100:290, 1957Google Scholar
  16. 16.
    Bochetto JF, Raycroft JF, DeInnocentes LW: Multiple polyposis exostosis and soft tissue tumors. Surg Gynec Obstet 117:489, 1963Google Scholar
  17. 17.
    Cole JW, McKalen A, Powell J: The role of ileal contents in the spontaneous regression of rectal adenomas. Dis Colon Rectum 4:413, 1961Google Scholar
  18. 18.
    Thomas KE, Watne AL, Johnson JG, et al: Natural history of Gardner's Syndrome: Amer J Surg 115:218, 1968Google Scholar
  19. 19.
    Gorlin RJ. Chaudhry AP: Multiple osteomatosis, fibromas, lipomas, and fibrosarcomas of the skin and mesentery, epidermoid inclusion cysts of the skin, leiomyomas and multiple intestinal polyposis: A heritable disorder of connective tissue. New Eng J Med 263:1151, 1960Google Scholar
  20. 20.
    LeFevre HW, Jr, Jacques TF: Multiple polyposis in an infant of four months. Amer J Surg 81:90, 1951Google Scholar
  21. 21.
    Smith WG: Multiple polyposis, Gardner's Syndrome, and desmoid tumors. Dis Colon Rectum 1:323, 1958Google Scholar
  22. 22.
    Dawborn JK, Ferguson J, Stanistreet RH: Familial polyposis coli with multiple sebaceous cysts and osteomata. Aust Ann Med 11:195, 1962Google Scholar
  23. 23.
    Guptill P: Familial polyposis of the colon. Surgery 22:286, 1946Google Scholar
  24. 24.
    Weary PE, Lintiticum A, Cawley EP: Gardner's syndrome: A family group study and review. Arch Derm 90:20, 1964Google Scholar
  25. 25.
    Dockerty MB: Pathologic aspects in the control of spread of colonic carcinoma. Proc Mayo Clin 33:157, 1958Google Scholar
  26. 26.
    Dukes CE: Cancer control in familial polyposis of the colon. Dis Colon Rectum 1:413, 1958Google Scholar
  27. 27.
    Dukes CE: Familial intestinal polyposis. Ann Eugen 17:1, 1952Google Scholar
  28. 28.
    Gumpel RC, Carballo JD: A new concept of familial adenomatosis. Ann Intern Med 45:1045, 1956Google Scholar
  29. 29.
    Duncan BR, Dohner VA, Priest JH: The Gardner Syndrome: Need for early diagnosis. J Pediat 72:497, 1968Google Scholar
  30. 30.
    Kaplan BJ: Gardner's Syndrome: Heredofamilial adenomatosis associated with “soft and hard” fibrous tumors and epidermoid cysts. Dis Colon Rectum 4:252, 1961Google Scholar
  31. 31.
    Martel AJ, Bonanno CA: Multiple polyposis of the gastrointestinal tract with osteoma and soft tissue tumors. Amer J Dig Dis 12:588, 1968Google Scholar
  32. 32.
    MacDonald JM, Davis WC, Crago HR, et al: Gardner's Syndrome and periampullary malignancy. Amer J Surg 113:425, 1967Google Scholar
  33. 33.
    Heffernon EW, Metcalfe O, Schwarz HJ Jr: Polyposis of the small and large bowel with carcinoma in a villous polyp of the jejunum: Report of a case. Gastroenterology 42:60, 1962Google Scholar
  34. 34.
    Ingram IN, Davis WC: Primary carcinoma of the jejunum. Amer J Surg 87:747, 1954Google Scholar
  35. 35.
    Murphy ES, Mireles M, Beltran A: Familial polyposis of the colon and gastric carcinoma: Concurrent conditions in a 16 year old boy. JAMA 170:1026, 1962Google Scholar
  36. 36.
    Turcot J, Blancard H, Wolff D: Concepts regarding polyposis of the colon. Dis Colon Rectum 11:9, 1968Google Scholar
  37. 37.
    Thomford NR, Greenberger NJ: Lymphoid polyps of the ileum associated with Gardner's Syndrome. Arch Surg 96:289, 1968Google Scholar
  38. 38.
    Wilson JS: Regression of polyps following subtotal colectomy for familial polyposis. Med Bull US Army Europe 21:227, 1964.Google Scholar
  39. 39.
    Gardner EJ: Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas, and epidermal cysts. Amer J Hum Genet 14:376, 1962Google Scholar
  40. 40.
    Cramer LM: Gardner's Syndrome. Plast Reconstr Surg 29:402, 1962Google Scholar
  41. 41.
    Plenk HP, Gardner EJ: Osteomatosis: Hereditary disease of membranous bone formation in one family associated with polyposis of the colon. Radiology 62:830, 1954Google Scholar
  42. 42.
    Stritzler C: Gardner's Syndrome. Arch Derm 87:778, 1963Google Scholar
  43. 43.
    Osler TR: Multiple polyposis of the colon with associated manifestations. Canad J Surg 6:155, 1963Google Scholar
  44. 44.
    Laberge MY, Sauer WG, Mayo CW: Soft tissue tumors associated with familial polyposis. Proc Mayo Clin 32:749, 1957Google Scholar
  45. 45.
    Collins DC: The frequent association of other body tumors with familial polyposis. Amer J Gastroent 31:376, 1959Google Scholar
  46. 46.
    Gordon WC, Rast MF, Whelan TJ: Gardner's Syndrome. Ann Surg 155:538, 1962Google Scholar
  47. 47.
    Smith WG: Desmoid tumors in familial multiple polyposis. Proc Mayo Clin 34:31, 1959Google Scholar
  48. 48.
    O'Brien JP, Wells P: The synchronous occurrence of benign fibrous tissue neoplasia in hereditary adenosis of the colon and rectum. New York J Med 55:1877, 1955Google Scholar
  49. 49.
    Simpson RD, Harrison EG, Jr, Mayo CW: Mesenteric fibromatosis and familial polyposis: Variant of Gardner's Syndrome. Cancer 17:526, 1964Google Scholar
  50. 50.
    Fader M, Kline SN, Spatz SS, et al: Gardner's Syndrome and a new dental discovery. Oral Surg 15:153, 1962Google Scholar
  51. 51.
    Weston SD, Wiener M: Familial polyposis associated with a new type of soft tissue lesion (skin pigmentation): Report of three cases and a review of the literature. Dis Colon Rectum 10:311, 1967Google Scholar
  52. 52.
    McKusick VA: Genetic factors in intestinal polyposis. JAMA 182:271, 1962Google Scholar
  53. 53.
    Gorlin RJ, Sedano HO, Vickers RA, et al: Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid-A syndrome. Cancer 22:293, 1968Google Scholar
  54. 54.
    Marshall WH, Martin FIR, MacKay IR: Gardner's Syndrome with adrenal carcinoma. Aust Ann Med 16:242, 1967Google Scholar
  55. 55.
    Smith WG: Familial multiple polyposis: Research tool for investigating the etiology of carcinoma of the colon? Dis Colon Rectum 11:17, 1968Google Scholar
  56. 56.
    Camiel MR, Mulé JE, Alexander LL, et al: Association of thyroid carcinoma with Gardner's Syndrome in siblings. New Eng J Med 278:1056, 1968Google Scholar
  57. 57.
    Mayo CW, Pagtalunan RJG: Malignancy of colon and rectum in patients under 30 years of age. Surgery 53:711, 1963Google Scholar
  58. 58.
    Reichman HR: Familial adenomatosis. J Int Coll Surg 14:700, 1950Google Scholar
  59. 59.
    Smith ND, Hill JR: Multiple polyposis: Results of fulguration of polyps in the distal portion of the colon after ileosigmoidostomy and colectomy. JAMA 148:440, 1952Google Scholar
  60. 60.
    Boehme EJ: Surgical treatment of familial polyposis of the colon. Ann Surg 131:519, 1950Google Scholar
  61. 61.
    Everson TC, Allen MJ: Subtotal colectomy with ileosigmoidostomy and fulguration of polyps in the retained colon. Arch Surg 69:806, 1954Google Scholar
  62. 62.
    Anschuetz RR: The management of familial polyposis of the colon. Surgery 29:532, 1951Google Scholar
  63. 63.
    Mayo CW: Familial adenomatosis or polyposis: Report of a case. Proc Mayo Clin 35:409, 1960Google Scholar
  64. 64.
    Schaffer RC: Familial colonic polyposis. Amer J Surg 84:477, 1952Google Scholar
  65. 65.
    Hubbard TB, Jr: Familial polyposis of the colon: The fate of the retained rectum after colectomy in children. Amer J Surg 23:577, 1957Google Scholar
  66. 66.
    McLachlin AA: Familial intestinal polyposis. Arch Surg 79:393, 1959Google Scholar
  67. 67.
    Cole JW, Holden WD: Post colectomy regression of adenomatous polyps of the rectum. Arch Surg 79:385, 1959Google Scholar
  68. 68.
    Dunphy JE. Paterson WB, Legg MA: Etiologic factors in polyposis and carcinoma of the colon. Ann Surg 150:488, 1959Google Scholar
  69. 69.
    Localio SA: Spontaneous disappearance of rectal polyps following subtotal ecolectomy and ileoproctostomy for polyposis of the colon. Amre J Surg 103:81, 1962Google Scholar
  70. 70.
    Waugh JM, Harp RA, Spencer RJ: The surgical management of multiple polyposis. Ann Surg 159:149, 1964Google Scholar
  71. 71.
    Smith WG, Jackman RJ: Results of treatment in familial multiple polyposis. Proc Mayo Clin 31:304, 1956Google Scholar
  72. 72.
    Ravitch MM, Sabiston DC: Anal ileostomy with preservation of the sphincter—A proposed operation in patients requiring total colectomy for benign lesions. Surg Gynec Obstet 84:1095, 1947Google Scholar
  73. 73.
    Devine J, Webb R: Resection of the rectal mucosa, colectomy and anal ileostomy with normal continence. Surg Gynec Obstet 92:437, 1951Google Scholar

Copyright information

© Hoeber Medical Division • Harper & Row, Publishers, Incorporated 1970

Authors and Affiliations

  • Robert D. Coli
    • 1
    • 2
    • 3
  • Jeffery P. Moore
    • 1
    • 2
    • 3
  • Paul H. La Marche
    • 1
    • 2
    • 3
  • Frank G. DeLuca
    • 1
    • 2
    • 3
  • Walter R. ThayerJr
    • 1
    • 2
    • 3
  1. 1.From the Department of Medical SciencesBrown UniversityProvidence
  2. 2.the Division of GastroenterologyRhode Island HospitalProvidence
  3. 3.the Department of RadiologyRoger Williams General HospitalProvidence

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