JOUBERT SYNDROME - A CLINICAL AND PATHOLOGICAL DESCRIPTION OF AN AFFECTED MALE AND A FEMALE FETUS FROM THE SAME SIBSHIP

A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningo-encephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented.