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Am J Med Genet. 1991 Jul 1;40(1):100-4.

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

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  • 1Department of Ophthalmology, Free University of Amsterdam, The Netherlands.


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.

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