Prenatal ultrasonographic features of Joubert syndrome

Abstract

We describe the prenatal imaging of 2 fetuses at risk for Joubert syndrome (JS). In the first case, the mother, who had previously given birth to a child with JS, was referred to our hospital at 17 weeks' gestation. The prenatal diagnosis of JS complicated with an encephalocele was made. In the second case, the mother had previously given birth to 2 children with JS. A diagnosis of JS complicated with postaxial polydactyly of the right foot was made. In both cases, the pregnancy was terminated following genetic counseling. Postmortem examinations confirmed the diagnosis of JS.