• 作者：Jorge Mart&#237 ; nez Medel^a ; ^{jmartinezme@salud.aragon.es} ; Olga Sanz As&#237 ; n^a ; Irene Amat Villegas^b ; Beatriz Azcona Ruiz^a ; Ana Cristina Cabistany Esqué ; ^c ; Enrique Mart&#237 ; n de Marcos^a
• 关键词：Sí ; ndrome de Meckel ; Diagnó ; stico prenatal ; Diagnó ; stico diferencial
• 刊名：Progresos de Obstetricia y Ginecolog铆a
• 出版年：2012
• 期刊代码：pca294_03045013
• 类别：med
• 出版时间：June-July, 2012
• 卷：55
• 期：6
• 页码：269-273
• 文件大小：919 K

Meckel syndrome is an infrequent and lethal syndrome characterized by multiple malformations. Inheritance is autosomal recessive. The incidence of this syndrome ranges from 1:1,300 to 1:140,000 births. The most common malformations are those affecting the central nervous system (usually occipital meningoencephalocele), bilateral renal cystic dysplasia, fibrotic changes of the liver and polydactyly. The associated genomic alteration can involve distinct loci. Prenatal diagnosis is feasible with ultrasound findings and, in numerous cases, with fetal DNA analysis. We present the case of a woman who had two consecutive pregnancies with a diagnosis of Meckel syndrome.