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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Copyright and license

Copyright © 2022 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

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 Aug. 23];16(4):343-5. Available from: https://turkjpediatrdis.org/article/view/877