Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.

Dandy-Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker-Warburg and Meckel-Gruber syndromes. We report a novel association with type III lissencephaly in a 22-week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. These abnormalities were confirmed by magnetic resonance imaging and autopsy, which also revealed pulmonary and adrenal hypoplasia, common mesentery and bilateral uretero-pyelo-calyceal dilatation. Neuropathological examination showed brain calcifications and diffuse neuronal degeneration. We conclude that DWM may be a feature of type III lissencephaly and that this association can be easily diagnosed by ultrasound.