We report on the observation of six cases in a family of eight, all under 30, in whom the diagnosis was obtained at first hand by rectosigmoidoscopy. This procedure appears sufficient as the number of polyps tends to decrease with increasing distance from the anal margin. The recent finding of abnormalities of chromosome 5 (long arm) permits the identification of carriers of this genotype by simple blood examination (DNA probe), thus greatly enhancing the possibilities of screening for the disease. Each of our cases was managed with subtotal colectomy and ileorectal anastomosis. Preservation of the rectum was preferred to other techniques as all subjects were young, mildly affected and with good motivation for twice-yearly endoscopic follow-up. The surgical technique appears simple and quite safe with satisfactory functional results and easy feasibility of endoscopic surveillance.

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