Meckel Gruber Syndrome diagnosed in two consecutive pregnancies

Proceedings in Obstetrics and Gynecology

Melek iek¹  Glnur zakit¹  Suat Dede¹  Yetkin Karasu¹  Kahraman lker¹  Servet Gendal¹  Murat Bozkurt¹ 

[1] Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey

关键词: Meckel-Gruber syndrome;    encephalocele;    polycystic kidney;    polydactyly;    pes equinovarus;   

学科分类：妇产科学

来源: University of Iowa

【 摘 要 】

Meckel Gruber syndrome is a lethal, autosomal recessive, multisystemic disorder that is associated with a mutation affecting ciliogenesis. In this report, we present two consecutive pregnancies of a woman complicated with MKS. In the first pregnancy with MKS, the amniotic fluid index was under 1 cm with bilateral polycystic fetal kidneys. Post-abortion macroscopic examination of the first fetus revealed multiple congenital anomalies including occipital encephalocele, axial polydactyly and pes equinovarus. Ultrasound examination during the second gestation revealed a singleton pregnancy complicated by MKS. There were multiple congenital anomalies including an occipital encephalocele, polycystic and horseshoe shaped kidneys, axial polydactyly, cleft lip and palate.

【 授权许可】

Unknown