Friedman E, Sack J
J Craniofac Genet Dev Biol. 1982;2(3):193-200.
The Cohen syndrome is a genetic disorder consisting of mental retardation, obesity, hypotonia, and a characteristic craniofacial appearance. Since its original description, 13 patients have been reported. This presentation gives an account of 5 additional cases in 4 families and provides further evidence that this disorder is most probably transmitted as an autosomal recessive trait. This study also demonstrates the range of clinical features observed in this syndrome and suggests that the basic defect may be one of connective tissue.
科恩综合征是一种遗传性疾病，其特征包括智力发育迟缓、肥胖、肌张力减退以及典型的颅面部外观。自首次描述以来，已报告了13例患者。本文介绍了4个家庭中的另外5例病例，并进一步证明该疾病很可能以常染色体隐性性状遗传。这项研究还展示了该综合征所观察到的临床特征范围，并表明基本缺陷可能是结缔组织方面的缺陷之一。
