Phenotypic variability in Meckel-Gruber syndrome

Objective Meckel-Gruber syndrome (MGS) is a clinically and genetically heterogeneous disease with severe multisystem manifestations, associated with mutation in primary cilia-related genes. It is marked by a characteristic triad of major abnormalities: brain malformation (typically encephalocele), hepatorenal fibrocyctic changes and polydactyly. The aim of the study was to present a comprehensive analysis of autopsy findings in fetuses with MGS and to emphasise the phenotypic variability in this ciliopathy.