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Case Report
Online Published: 02 Mar 2012
 


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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How to Cite this Article
Pubmed Style

Usman M, Rehman I-, Jawad RA, Akhtar S, Nazir R, Rana A, Chaudhry MY. Familial Joubert Syndrome in two siblings: a case report. RMJ. 2012; 37(1): 56-57.

Web Style

Usman M, Rehman I-, Jawad RA, Akhtar S, Nazir R, Rana A, Chaudhry MY. Familial Joubert Syndrome in two siblings: a case report. https://www.rmj.org.pk/?mno=12038 [Access: June 22, 2026].

AMA (American Medical Association) Style

Usman M, Rehman I-, Jawad RA, Akhtar S, Nazir R, Rana A, Chaudhry MY. Familial Joubert Syndrome in two siblings: a case report. RMJ. 2012; 37(1): 56-57.


Vancouver/ICMJE Style

Usman M, Rehman I-, Jawad RA, Akhtar S, Nazir R, Rana A, Chaudhry MY. Familial Joubert Syndrome in two siblings: a case report. RMJ. (2012), [cited June 22, 2026]; 37(1): 56-57.


Harvard Style

Usman, M., Rehman, . I. -., Jawad, . R. A., Akhtar, . S., Nazir, . R., Rana, . A. & Chaudhry, . M. Y. (2012) Familial Joubert Syndrome in two siblings: a case report. RMJ, 37 (1), 56-57.


Turabian Style

Usman, Muhammad, Imaad -ur- Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, and Mohammad Yousaf Chaudhry. 2012. Familial Joubert Syndrome in two siblings: a case report. Rawal Medical Journal, 37 (1), 56-57.


Chicago Style

Usman, Muhammad, Imaad -ur- Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, and Mohammad Yousaf Chaudhry. "Familial Joubert Syndrome in two siblings: a case report." Rawal Medical Journal 37 (2012), 56-57.


MLA (The Modern Language Association) Style

Usman, Muhammad, Imaad -ur- Rehman, Rehmani Aniqah Jawad, Samina Akhtar, Rashed Nazir, Atif Rana, and Mohammad Yousaf Chaudhry. "Familial Joubert Syndrome in two siblings: a case report." Rawal Medical Journal 37.1 (2012), 56-57. Print.


APA (American Psychological Association) Style

Usman, M., Rehman, . I. -., Jawad, . R. A., Akhtar, . S., Nazir, . R., Rana, . A. & Chaudhry, . M. Y. (2012) Familial Joubert Syndrome in two siblings: a case report. Rawal Medical Journal, 37 (1), 56-57.


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