Aicardi's syndrome: a result of overdistention of the neural tube. The absent pineal gland.
The clinical picture of the Aicardi syndrome consists of a mentally retarded female infant with seizures, who lacks a corpus callosum and a pineal gland. There is Dandy-Walker malformation, vertebral anomalies, chorioretinopathy, coloboma, and heterotopia of gray matter. Since overdistention of the neural tube is the cause of each of these anatomic features, the same cause is responsible for the complete syndrome.
D061085:Agenesis of Corpus Callosum; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000175:diagnosis; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000175:diagnosis*; D010870:Pineal Gland / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities; D013577:Syndrome