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
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