摘要目的 探讨Dandy-Walker综合征的病因、发病机制、病理特征及临床预后、治疗等.方法 回顾9例Dandy-Walker综合征的尸体解剖资料、临床病史及相关的文献,分析Dandy-Walker综合征的病因、发病机制、病理特征及临床预后等.结果 9例Dandy-Walker综合征病例有6例符合Dandy-Walker变异型,3例符合典型Dandy-Walker畸形.9例中有4例同时合并侧脑室扩张,7例为多发畸形.Dandy-Walker变异型有4例合并脐带异常,典型Dandy-Walker畸形有1例合并胎盘异常.结论Dandy-Walker综合征是一种罕见的疾病,其病因复杂,除遗传和环境因素外,胎盘、脐带异常可能是其病因之一,本病患儿预后较差,仅少数病例可行宫内治疗.

abstractsObjective To investigate the etiology,pathogenesis,clinicopathologic characteristics,clinical prognosis and treatment of Dandy-Walker syndrome.Methods Nine cases of Dandy-Walker syndrome were included in the study.The autopsy findings and clinical history were evaluated along with review of the literature.The causes,pathogenetic mechanism,pathologic features and prognosis of DandyWalker syndrome were analyzed.Results Among 9 Dandy-Walker syndrome cases,six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation.In addition,4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases.Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome.Conclusions DandyWalker syndrome is a rare disease.In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies,placental and umbilical cord abnormality may be also related to its development.