Mathias J R, Smith W G
Am J Dig Dis. 1977 Aug;22(8):741-4. doi: 10.1007/BF01078358.
This patient represents the 25th case report of mesenteric fibromatosis in patients with Gardner's syndrome. Her family genealogy reveals polyposis of the colon in nine members in four generations. In addition, one member has papillary carcinoma of the thyroid and one has newly discovered osteomas. To our knowledge, this family may be the first to manifest this combination of extracolonic lesions with familial polyposis, and the case supports a single-gene etiology for the complete syndrome.
该患者是加德纳综合征患者中肠系膜纤维瘤病的第25例病例报告。她的家族谱系显示四代人中九名成员患有结肠息肉病。此外，一名成员患有甲状腺乳头状癌，一名成员新发现患有骨瘤。据我们所知，这个家族可能是首个出现这种结肠外病变与家族性息肉病组合的家族，该病例支持整个综合征由单基因病因引起的观点。
