Cranial sonographic findings in Joubert's syndrome

The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children in the first family and 6 children in the second family were affected by Joubert's syndrome. To our knowledge, cranial sonographic findings in this syndrome have not been described before.