Zespół wielojądrzastych neuronów, bezwodzia, dysplazji nerek, hipoplazji móżdżku i hydranencefalii

A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.