Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship

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Abstract
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.