Focal cerebral anomalies and retinal dysplasia in a 23–24-week-old fetus

A 23-24-week-old fetus was the product of a normal pregnancy terminated because of diaphragmatic hernia and hydrocephalus diagnosed by ultrasound. Karyotype on fetal blood was normal. At autopsy, hydrocephalus was associated with multiple large intrameningeal nodules and focal cerebral dysplasia resembling type II lissencephaly. In addition, many structures of the brainstem were dysmorphic and the retina showed multiple rosettes. Skeletal muscle was normal. The peculiar features described in this case pose problems for classification and genetic implications of the anomalies.