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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

Total Pages

5

Financial Disclosure

The authors report no conflict of interest.

Rights

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

Creative Commons License


This work is licensed under a Creative Commons Attribution 4.0 License.

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