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.
van Dorp
D B
DB
Department of Ophthalmology, Free University of Amsterdam, The Netherlands.
Palan
A
A
Kwee
M L
ML
Barth
P G
PG
van der Harten
J J
JJ
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D000028:Abortion, Induced; D001921:Brain / Q000196:embryology / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy