The prenatal diagnosis of joubert's syndrome of familial agenesis of the cerebellar vermis |
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| Authors: | Stuart Campbell Christina Tsannatos J Malcolm Pearce |
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| Institution: | Deparments of Obstetric Ultrasound and Pathology, King's College Hospital, London SE5 8RX. U.K. |
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| Abstract: | The prenatal diagnosis by ultrasound examination of Joubert's syndrome of familial agenesis of the cerebellar vermis is described allowing termination of pregnancy ai 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. |
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| Keywords: | Joubert's syndrome Prenatal diagnosis Ultrasound |
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