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 terminate d because of diaphragmatic hernia and hydrocephalus diagnosed by ultra sound. Karyotype on fetal blood was normal. At autopsy, hydrocephalus was associated with multiple large intrameningeal nodules and focal ce rebral dysplasia resembling type II lissencephaly. In addition, many s tructures of the brainstem were dysmorphic and the retina showed multi ple rosettes. Skeletal muscle was normal. The peculiar features descri bed in this case pose problems for classification and genetic implicat ions of the anomalies.