Herriot R, Hallam L A, Gray E S
Department of Immunology, Western Infirmary, Glasgow, Scotland.
Am J Med Genet. 1991 May 1;39(2):207-10. doi: 10.1002/ajmg.1320390218.
The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.
梅克尔综合征是一种常染色体隐性疾病,包括一组异质性的中枢神经系统畸形,最常见的是枕部脑膨出。我们报告了2例同胞以及另外1例无关个体患有梅克尔综合征,他们的中枢神经系统异常为丹迪-沃克畸形,这是一种此前未被描述过的关联。本文还对用于诊断梅克尔综合征的标准进行了综述。