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Asian Institute of Research, Journal Publication, Journal Academics, Education Journal, Asian Institute
Asian Institute of Research, Journal Publication, Journal Academics, Education Journal, Asian Institute

Journal of Health and Medical Sciences

ISSN 2622-7258

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open access

Published: 28 March 2023

Beyond Childhood: Joubert Syndrome in a 34-Year-Old Female – A Case Report

Alwyn John Jamandre, Manolo Kristoffer Flores, John Harold Hiyadan, Cay Anne Melecio-Jamandre

Baguio General Hospital and Medical Center (Philippines), Dr. Paulino J. Garcia Memorial Research and Medical Center (Philippines)

journal of social and political sciences
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Pages: 71-75

Keywords: Joubert Syndrome, Molar Tooth Sign


A 34 years old female presented with developmental delay, hypotonia, ataxia, oculomotor apraxia, and intellectual disability. Cranial magnetic resonance imaging (MRI) revealed molar tooth sign (MTS) which is pathognomonic for Joubert Syndrome (JS). Joubert syndrome is a congenital autosomal recessive disorder that affects the area of the brain responsible for balance and coordination. Most cases are diagnosed in the neonatal period and most do not survive into adulthood. We report a case of Classic JS diagnosed in an adult, a first in our institution.


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