Prenatal diagnosis of Joubert syndrome by ultrasound and magnetic resonance imaging – report of three cases

Three pregnant women were detected with their fetuses showing abnormalities in the mid-hindbrain by prenatal ultrasound and magnetic resonance imaging (MRI) examination. The “molar tooth sign” appeared between the superior cerebellar peduncle and the midbrain. These fetuses were all diagnosed with Joubert syndrome with MRI. The diagnosis of Joubert syndrome during pregnancy is very rare. MRI examination during pregnancy is very important for the diagnosis of Joubert syndrome. The “molar tooth sign” and the crevice between the hemispherium cerebelli can be used for early detection of Joubert syndrome.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research