Which noncutaneous findings are characteristic of Gardner syndrome?

Updated: Apr 05, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Noncutaneous features of Gardner syndrome include the following:

  • Desmoid tumors occur as swelling in the anterior abdominal wall and are often preceded by surgical trauma. The incidence of desmoid tumors in FAP is 8.9%, whereas it is rare in the general population. [13]

  • Osteomas are required to make the diagnosis of Gardner syndrome. The mandible is the most common location. They may be widespread in the jaw. [14] However, osteomas may occur in the skull and the long bones. Osteomas precede clinical and radiologic evidence of colonic polyposis; therefore, they may be sensitive markers for the disease.

  • Colonic adenomatous polyps have a 100% risk of transformation to colonic adenocarcinoma.

  • Multifocal pigmented lesions of the fundus are seen in 80% of patients and may present shortly after birth. These lesions can be the first marker of disease.

  • Dental abnormalities in this syndrome include multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes, and dentigerous cyst. [15, 16] These dental findings may become evident several years before the intestinal ones. [17]

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