Palmer T H
Am J Surg. 1982 Apr;143(4):405-8. doi: 10.1016/0002-9610(82)90186-6.
A family of 68 members in six generations has been investigated, and thus far 23 of these have had colorectal polyposis, cancer, or both. Many of the 23 have had a variety of soft tissue lesions, occult osteomas of the mandible, and dental abnormalities. Six of nine siblings in the proband's immediate family had diffuse colorectal polyposis and soft tissue lesions, as have 4 of their 20 children. One of three members of the most recent generation has polyposis and skin lesions. Retrospectively, 2 of the proband's 18 maternal cousins had colorectal polyposis or cancer, as did five of six siblings in her mother's generation. Four of nine siblings in the previous generation died from colon cancer, and so did their father. In the first three generations cancer was prevented in only 1 of 10 patients. Two of 13 in the later three generations thus far have died from colorectal cancer. Both coloproctectomy and colectomy with preservation of the rectum have been utilized in the patients in this study. Lifelong follow up is underway for those whose rectum has been removed.
对一个六代68名成员的家族进行了调查，到目前为止，其中23人患有结肠直肠息肉病、癌症或两者皆有。这23人中许多人还患有各种软组织病变、下颌骨隐匿性骨瘤和牙齿异常。先证者直系亲属中的9名兄弟姐妹中有6人患有弥漫性结肠直肠息肉病和软组织病变，他们的20个孩子中有4人也是如此。最新一代的3名成员中有1人患有息肉病和皮肤病变。回顾性分析，先证者的18名母系表亲中有2人患有结肠直肠息肉病或癌症，她母亲那一代的6名兄弟姐妹中有5人也是如此。上一代的9名兄弟姐妹中有4人死于结肠癌，他们的父亲也是如此。在前三代中，10名患者中只有1人预防了癌症。到目前为止，后三代的13人中有2人死于结肠直肠癌。本研究中的患者采用了结肠直肠切除术和保留直肠的结肠切除术。对于那些直肠已被切除的患者，正在进行终身随访。
