Muhammad Usman, Imaadur Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, Mohammad Yousaf Chaudhry.
Familial joubert syndrome in two siblings.
Rawal Med J Jan ;37(1):56-7.

Joubert syndrome is a rare autosomal recessive neurological disorder with episodic hyperpnoea, developmental delay, abnormal eye movements and gait abnormalities. 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. (Rawal Med J 2012;37:56-57).

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