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

Toal Pages

5

Financial Disclosure

The authors report no conflict of interest.

Submission Type

Case Review

Creative Commons License


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

Publisher

Department of Obstetrics and Gynecology, The University of Iowa Hospitals and Clinics

Recommended Citation

Karasu Y, Ülker K, Bozkurt M, Gençdal S, Çiçek M, Dede S, Özakşit G. Meckel Gruber Syndrome diagnosed in two consecutive pregnancies. POG in Press 2014 August; Article 1 [ 5 p.]. Available from: http://ir.uiowa.edu/pog_in_press/. Free full text article.

 

URL

http://ir.uiowa.edu/pog_in_press/25