Case Report
Authors: Yetkin Karasu (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Kahraman Ülker (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Murat Bozkurt (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Servet Gençdal (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Melek Çiçek (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Suat Dede (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey) , Gülnur Özakşit (Department of Obstetrics and Gynecology, Kafkas University School of Medicine, Kars, Turkey)
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.
Keywords: Meckel-Gruber syndrome, encephalocele, polycystic kidney, polydactyly, pes equinovarus
How to Cite: Karasu, Y. , Ülker, K. , Bozkurt, M. , Gençdal, S. , Çiçek, M. , Dede, S. & Özakşit, G. (2015) “Meckel Gruber Syndrome diagnosed in two consecutive pregnancies”, Proceedings in Obstetrics and Gynecology. 4(3). doi: https://doi.org/10.17077/2154-4751.1264