Gardner's syndrome

Abstract

Summary and Conclusions Familial polyposis of the colon and rectum appears to be a nonsex-linked hereditary disease, due to a single mutant or pleomorphic gene, which is transmitted as a Mendelian dominant with the expectation that approximately 50 per cent of the off-spring of the affected individual will have the same disease. In recent years the association of familial polyposis with multiple epidermoid cysts and soft or hard fibrous-tissue tumors has been recognized and called Gardner's syndrome. The true syndrome embodies developmental defects of all three germ layers. A case is reported which has all the manifestations of Gardner's syndrome, as well as other interesting features, including a benign, small-bowel tumor, and a congenital anomaly of the anus. Obstructive symptoms occurring during the postoperative period, caused by fibrous adhesions, and the fact that the family history suggested that there had been other similar cases, also, is interesting. Every patient who has multiple epidermoid cysts, osteomata or other soft fibroustissue tumors, regardless of his age, should be investigated for familial polyposis of the colon and rectum, and the inquiry should include all living relatives. Such an approach will lead to earlier detection of persons in whom the disease may not be suspected and proper treatment can be administered in time to lessen the incidence of malignancy and decrease the mortality rate, which is such a disturbing feature of this disease. It is highly desirable that such reliable evidence of polypoid disease of the colon as that encountered in this case report be evaluated properly and that similar cases be reported in the hopes that knowledge of this unusual syndrome can be improved.