The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis.
The prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy at 26 weeks gestation. The diagnosis was made by a comparison of the prenatal ultrasound examination with computerized axial tomography obtained from the siblings with the same condition.
D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000002:abnormalities; D005133:Eye Movements; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography / Q000379:methods