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
Article

Abstract

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.

Keywords

Total Colectomy Subtotal Colectomy Testicular Cell Malignant Degeneration Classic Triad 

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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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