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

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.