# Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report)

## TL;DR

This case report describes a rare and fatal congenital disorder, Meckel-Gruber syndrome, diagnosed in a fetus through ultrasound and MRI, and confirmed by autopsy.

## Contribution

The report adds a new clinical case of Meckel-Gruber syndrome with prenatal diagnosis and autopsy confirmation.

## Key findings

- Meckel-Gruber syndrome was diagnosed in a fetus via prenatal ultrasound and MRI.
- The diagnosis was confirmed postnatally through fetal autopsy.
- The condition was identified in a pregnancy from a consanguineous couple.

## Abstract

Meckel-Gruber syndrome is a rare congenital disorder characterized by multiple malformations. It transmits via a recessive autosomal mode. It is characterized by an occipital encephalocele, polydactyly, and polycystic renal dysplasia. The diagnosis could be established via ultrasound. In fact, it is actually the key method for the early screening of this lethal malformation with at least two of its main characteristics. However, the diagnosis is confirmed by karyotype analysis. Herein, we present a case of Meckel-Gruber syndrome diagnosed in a fetus from a consanguineous marriage in a 40-year-old woman, gravida 2 para 1, with one previous healthy child. This pregnancy was terminated at 19 weeks of gestation. The diagnosis was made through prenatal ultrasound and magnetic resonance imaging (MRI). With later confirmation by fetal autopsy.