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Clinical and Imaging Profile of Patients with Joubert Syndrome

Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, Pal PK

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features...
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A Case of Joubert Syndrome Accompanied with Retinal Abnormality

Park JY, Kim SI, Jeon HS, Choi HY

PURPOSE: Joubert syndrome is a rare disorder which affects the cerebellum and the brain stem. Herein, we report a case of Joubert syndrome accompanied with retinal abnormality. CASE SUMMARY: A 9-year-old...
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A Case of Joubert Syndrome

Choi HW, Chun KU, Kim HM, Ho B

  • KMID: 1582229
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):105-110.
Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnormal eye movements, and a respiratory pattern of alternating tachypnea and...
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