Sack J, Friedman E
Clin Genet. 1980 May;17(5):317-9. doi: 10.1111/j.1399-0004.1980.tb00156.x.
The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance. Of the seven previously reported patients, none had any cardio-vascular involvement. This report describes an affected Jewish female, who, in addition to the usual malformations, has a floppy mitral valve.
科恩综合征是一种罕见的遗传性疾病,其特征包括肥胖、智力迟钝、肢体异常和典型的颅面外观。在之前报道的7例患者中,无一例有心血管受累情况。本报告描述了一名患病的犹太女性,除了常见的畸形外,她还有二尖瓣脱垂。