Summers M C, Donnenfeld A E
Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Philadelphia, Pennsylvania, USA.
Am J Med Genet. 1995 Jan 2;55(1):57-61. doi: 10.1002/ajmg.1320550116.
The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes.
梅克尔综合征（MS）是一种常染色体隐性疾病，典型表现为枕部脑膨出、多囊肾和多指畸形三联征。在此，我们描述了3例患有不同表现形式MS的同胞。先证者患有孤立性囊性肾病。另外两名同胞在产前均被诊断患有肾病、多指畸形以及丹迪-沃克畸形，这是MS中一种不常见的中枢神经系统缺陷。本文结合MS的表型表达、该疾病的分类学以及脑-肾-指（梅克尔样）综合征对这些发现进行了讨论。
