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.
Meckel-Gruber syndrome, encephalocele, polycystic kidney, polydactyly, pes equinovarus
The authors report no conflict of interest.
Copyright © 2015 Yetkin Karasu, Kahraman Ülker, Murat Bozkurt, Servet Gençdal, Melek Çiçek, Suat Dede, and Gülnur Özakşit
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Karasu Y, Ülker K, Bozkurt M, Gençdal S, Çiçek M, Dede S, Özakşit G. Meckel Gruber Syndrome diagnosed in two consecutive pregnancies. Proc Obstet Gynecol. 2015 Feb 23;4(3):Article 8 [5 p.]. https://doi.org/10.17077/2154-4751.1264. Free full text article.