Murray J C, Johnson J A, Bird T D
Clin Genet. 1985 Oct;28(4):272-83. doi: 10.1111/j.1399-0004.1985.tb00401.x.
The Dandy-Walker malformation (DWM) includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. Genetic influences and recurrence risks for DWM have not been well characterized. We report a retrospective study of 21 autopsy-proven cases of DWM and review the literature regarding an additional 92 subjects. DWM represents marked genetic and etiologic heterogeneity. Recurrence risk for siblings may be high when DWM is associated with a single gene disorder such as the autosomal recessive Warburg and Meckel-Gruber syndromes. DWM may also result from chromosomal anomalies or environmental factors. When the evidence suggests that DWM has not occurred as part of a Mendelian or chromosomal disorder then the recurrence risk is relatively low (on the order of 1 to 5%). There appears to be an increased frequency of the association of DWM with congenital heart disease, cleft lip/palate and neural tube defects. Based on our study we provide guidelines for the genetic counseling of families having a child with DWM.
丹迪-沃克畸形（DWM）包括脑积水、小脑蚓部不完整和后颅窝囊肿。DWM的遗传影响和复发风险尚未得到充分描述。我们报告了一项对21例经尸检证实的DWM病例的回顾性研究，并复习了另外92例相关文献。DWM表现出显著的遗传和病因异质性。当DWM与单一基因疾病（如常染色体隐性遗传的沃伯格综合征和梅克尔-格鲁伯综合征）相关时，其同胞的复发风险可能很高。DWM也可能由染色体异常或环境因素导致。当有证据表明DWM并非作为孟德尔或染色体疾病的一部分出现时，复发风险相对较低（约为1%至5%）。DWM与先天性心脏病、唇腭裂和神经管缺陷的关联频率似乎有所增加。基于我们的研究，我们为有患DWM孩子的家庭提供了遗传咨询指南。
