Prenatal diagnosis of Joubert syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders” (Child Neurol. 2006 Apr;21(4):320-4). Authors are Fluss J, Blaser S, Chitayat D et al., from the Division of Pediatric Neurology, The Hospital for Sick Children, University of Toronto, Ontario, Canada. Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia, developmental delay, and oculomotor and respiratory abnormalities in relation to cerebellar vermian and midbrain dysgenesis. The midbrain dysgenesis is responsible for the molar tooth sign on axial magnetic resonance imaging (MRI). This classic hallmark of Joubert syndrome has been identified in other disorders sharing overlapping clinical and radiologic features with Joubert syndrome. The identification of a molar tooth sign has, however, rarely been documented by a fetal brain MRI. The authors report a case of Joubert syndrome diagnosed prenatally using fetal MRI. To access the full abstract of the article, click here.