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Case Report

RMJ. 2012; 37(1): 56-57


Familial Joubert Syndrome in two siblings: a case report

Muhammad Usman, Imaad -Ur- Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, Mohammad Yousaf Chaudhry.

Abstract
Joubert syndrome is a rare autosomal recessive neurological disorder.1 Patients usually present with episodic hyperpnoea, developmental delay, abnormal eye movements and gait abnormalities. Magnetic resonance imaging is considered the gold standard for diagnosis.
We describe a case of 6 months old baby boy who presented with hyperpnoea and developmental delay. MRI was performed which showed the characteristic molar tooth sign

Key words: Familial joubert syndrome, Molar tooth sign, MRI



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