Joubert syndrome: Case report of three affected siblings

Lt Col Saikat Bhattacharjee, Lt Col Suprita Kalra, Lt Col Preema Sinha, Col Samar Chatterjee

Abstract


Joubert syndrome (JS) is a rare autosomal recessive disorder that has variable phenotype but characteristic magnetic resonance imaging (MRI) findings. “Molar tooth” appearance of cerebellar peduncles and “bat-wing” appearance of the fourth ventricle are the classically described MRI findings. Herein, we describe JS in three siblings, products of a second-degree consanguineous marriage, who presented with developmental delay, abnormal eye movements, and impaired vision. The axial MRI in all three siblings revealed the classic MRI findings described in the JS.


Keywords


Ciliopathies, Joubert syndrome, Molar tooth sign

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Copyright (c) 2017 suprita kalra, SAIKAT BHATTACHARJEE, PREEMA SINHA, SAMAR CHATTERJEE

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.