Brain abnormalities in infants with Potter syndrome (oligohydramnios tetrad)

We examined the brains of seven unrelated infants with Potter syndrome (oligohydramnios tetrad), a lethal neonatal disorder characterized by abnormal facies, lung hypoplasia, limb deformities, and classically, renal agenesis. All infants had defects of neuronal migration. The brains were small for gestational age in five of seven infants, and in four infants, the middle and inferior temporal gyri were incompletely demarcated. Cerebellar heterotopia occurred in five infants. All had abnormal hippocampi and abnormal lamination of the cerebral cortex. These neuropathologic abnormalities suggest that Potter syndrome may not be the result of a single toxic or infectious insult but may represent a polygenic inherited disorder.