Moerman P, Verbeken E, Fryns J P, Goddeeris P, Lauweryns J M
Hum Genet. 1982;62(3):240-5. doi: 10.1007/BF00333528.
Eight new cases of Meckel syndrome, two of them occurring in the same family, are presented. Occipital encephalocele of varying extent, multicystic renal dysplasia not associated with urinary tract obstruction, and postaxial hexadactyly comprise the three basic features of this lethal syndrome with autosomal recessive inheritance. From our observations it appears that congenital hepatic fibrosis, abnormal external genitalia in male infants and a malformed tongue with lipomatous excrescences are also frequently occurring anomalies with important diagnostic value. The statement that the majority of cases of Meckel syndrome can be detected prenatally is further supported by two cases in the present series. The incidence of this syndrome may be much higher than previously thought.
本文报告了8例梅克尔综合征新病例，其中2例发生在同一家庭。不同程度的枕部脑膨出、与尿路梗阻无关的多囊性肾发育不良以及轴后多指畸形是这种常染色体隐性遗传致死综合征的三个基本特征。根据我们的观察，先天性肝纤维化、男婴外生殖器异常以及伴有脂肪瘤样赘生物的畸形舌似乎也是常见的异常情况，具有重要的诊断价值。本系列中的2例病例进一步支持了大多数梅克尔综合征病例可在产前检测到这一说法。该综合征的发病率可能比之前认为的要高得多。
