Nigerian medical journal : journal of the Nigeria Medical Association
Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.
Wasinda Solomon Bulus, Fatima JoyBaba, Innocent AdoyiAgaba, Nasiru Raheem
Published: 202510.71480/nmj.v66i3.953
Abstract
Open AccessMeckel-Gruber Syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by a triad of occipital encephalocele, polycystic kidneys, and polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births, with a 25% reoccurrence rate. Prenatally, diagnosis can be made by ultrasonography for fetal anomalies at 11 to 14 weeks of pregnancy, which can guide management decisions. We report a female baby with the characteristic features of this syndrome, which was confirmed by autopsy findings.