Carey J C, Hall B D
J Pediatr. 1978 Aug;93(2):239-44. doi: 10.1016/s0022-3476(78)80504-6.
In 1973 Cohen et al reported a new syndrome in two siblings and an unrelated individual, consisting of obesity, mental retardation, hypotonia, limb abnormalities, and a characteristic craniofacial appearance. Since then no similar cases have appeared in the literature. This report firmly establishes the Cohen syndrome as a distinct clinical entity by presenting four additional patients, including a sibling pair of normal parents, suggesting autosomal recessive inheritance. One of our four patients has normal intelligence, indicating that mental deficiency is a variable feature of the syndrome.
1973年，科恩等人报告了一种发生在两名兄弟姐妹及一名无血缘关系个体身上的新综合征，其症状包括肥胖、智力迟钝、肌张力减退、肢体异常以及典型的颅面外观。自那时起，文献中未再出现类似病例。本报告通过呈现另外四名患者（包括一对父母正常的同胞兄妹）进一步证实了科恩综合征是一种独特的临床实体，提示其为常染色体隐性遗传。我们的四名患者中有一名智力正常，这表明智力缺陷是该综合征的一个可变特征。
