Mazneŭkova V, Kamenov E, Dimitrova L
State University Hospital of Obstetrics and Gynaecology Maichin Dom, Sofia.
Akush Ginekol (Sofiia). 2002;41(5):42-5.
Meckel-Gruber syndrome (MGS) is a lethal, rare, autosomal recessive condition manifested by clinical and genetical heterogenicity. The syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. The diagnosis is suspected by ultrasound and in families at risk of reccurrence of the syndrome it is made in the late first trimester of pregnancy. We present a patient with a previous pregnancy terminated in the second trimester because of ultrasound features for MGS, in whom a correct transvaginal ultrasound diagnosis of the same syndrome was made in 13 w.g. of the present pregnancy.
梅克尔-格鲁伯综合征（MGS）是一种致命的、罕见的常染色体隐性疾病，具有临床和遗传异质性。该综合征的特征为三联征：枕部脑膜脑膨出、多囊性发育不良肾和轴后多指畸形。通过超声可怀疑该诊断，对于有该综合征复发风险的家族，在妊娠早期即可做出诊断。我们报告一例患者，其前次妊娠因超声显示MGS特征而在孕中期终止妊娠，在本次妊娠13周时经阴道超声正确诊断为同一综合征。
