Familial Joubert Syndrome in two siblings: a case reportMuhammad Usman, Imaad -Ur- Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, Mohammad Yousaf Chaudhry.
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
Familial joubert syndrome, Molar tooth sign, MRI
Applied Medical Research
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