EP03.07: Prenatal diagnosis of Joubert syndrome and related cerebellar disorders and review of literatures

Abstract

To explore the clinical value of ultrasound imaging and MRI in the diagnosis of fetal Joubert syndrome. Three cases of fetal Joubert syndrome were analysed retrospectively. Recently related literatures were reviewed. Case 1 with suspected occipital encephalocele was transferred to fetal MRI, which confirmed the diagnosis of occipital encephalocele and Joubert syndrome. Case 2 were suffered from prominent cisterna magna, mirror image dextrocardia and polydactyly. After birth, Joubert syndrome were detected by MRI. Prenatal ultrasound imaging and MRI demonstrated Joubert syndrome in Case 3. By reviewing the literatures, ‘Molar tooth' sign and the abnormal shape of the fourth ventricle were found to be features of Joubert syndrome. ‘Molar tooth' sign and the abnormal features of the fourth ventricle are clues to diagnosis fetal Joubert syndrome. The use of MRI and family history of Joubert syndrome may help to make a correct diagnosis.