Nadir Bir Siliopati: Joubert Sendromu

Joubert syndrome is a rare autosomal recessive ciliopathy characterized by abnormal breathing patterns, hypotonia, ataxia, cerebellar vermis hypoplasia, developmental delay, ocular abnormalities, renal cysts and hepatic fibrosis.Molar tooth appearance on cranial magnetic resonance imaging (MRI) is an important finding for the diagnosis of Joubert syndrome.Awareness of the characteristic clinical and radiological findings of the syndrome will allow early diagnosis, appropriate counseling and proper rehabilitation.A patient who admitted to our hospital with hypotonia and abnormal eye movements and was diagnosed with Joubert syndrome is presented.