Case Report

Meckel Gruber Syndrome diagnosed in two consecutive pregnancies

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 diagnosed in two consecutive pregnancies

    Case Report

    Meckel Gruber Syndrome diagnosed in two consecutive pregnancies

    Authors: , , , , , ,

Abstract

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), 1-5. doi: https://doi.org/10.17077/2154-4751.1264

Rights: Copyright © 2015 Yetkin Karasu, Kahraman Ülker, Murat Bozkurt, Servet Gençdal, Melek Çiçek, Suat Dede, and Gülnur Özakşit

Downloads:
Download pdf
View PDF

235 Views

414 Downloads

Published on
23 Feb 2015
Peer Reviewed
License
CC BY 4.0