A Case Report on Joubert Syndrome: Molar Tooth Sign of the Mid-Brain

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Published: 2022-04-19

Page: 31-33


Enes Tarık İnci *

Department of Neurology, Ankara Training and Research Hospital, Ankara, Turkey.

Tahir Kurtuluş Yoldaş

Department of Neurology, Ankara Training and Research Hospital, Ankara, Turkey.

*Author to whom correspondence should be addressed.


Abstract

Joubert syndrome (JS) is a rare autosomal recessive disease characterized by the finding of molar tooth in the brain stem. The diagnosis of the disease is made by characteristic clinical findings and cranial magnetic resonance imaging (MRI). Although clinical features appear in the neonatal period, the diagnosis can usually be made years later.

Keywords: Joubert syndrome, molar tooth sign, ataxia, hypotonia, ocular motor apraxia


How to Cite

İnci, E. T., & Yoldaş, T. K. (2022). A Case Report on Joubert Syndrome: Molar Tooth Sign of the Mid-Brain. Asian Journal of Medical Case Reports, 4(1), 31–33. Retrieved from https://globalpresshub.com/index.php/AJMCR/article/view/1576

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