Rabbiosi G, Borroni G
Dermatologica. 1979;158(5):355-60. doi: 10.1159/000250780.
7 cases of Werner's syndrome in one family of northern Sardinia (the female : male ratio being 4:3) are reported. A 9-year-old girl affected with Cooley's anemia is reported too. The typical complete pattern of the syndrome was observed in patients in the fourth decade of their lives, whereas in the two youngest ones, some features were missing. 1 patient died of gastric carcinoma, 1 of cachexia. Consanguinity was established in two generations. The genealogical tree suggests an autosomal recessive mode of inheritance. Genealogical, clinical, biochemical, and histopathological studies were performed. As far as we know, this is the largest number of patients with Werner's syndrome reported in one family.
报告了撒丁岛北部一个家族中的7例沃纳综合征（男女比例为4:3）。还报告了一名患有库利贫血的9岁女孩。在40岁左右的患者中观察到了该综合征的典型完整症状，而最年轻的两名患者缺少一些症状。1例患者死于胃癌，1例死于恶病质。两代人之间存在近亲关系。系谱图表明其遗传方式为常染色体隐性遗传。进行了系谱、临床、生化和组织病理学研究。据我们所知，这是一个家族中报告的沃纳综合征患者数量最多的情况。
