Abstract

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.

Keywords: Joubert syndrome, Molar tooth, Ciliopathy

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How to cite

1.
Çelik AY, Yılmaz D, Kurt AN, Demirkan TH. A Rare Ciliopathy: Joubert Syndrome. Turk J Pediatr Dis [Internet]. 2022 Jul. 7 [cited 2025 May 24];16(4):343-5. Available from: https://turkjpediatrdis.org/article/view/877