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Scholars Journal of Medical Case Reports | Volume-2 | Issue-02
Joubert Syndrome and Related Disorders (JSRD) with Molar Tooth Sign -A Case Report
G Srivastava, S Srivastava, R Mehrotra
Published: Feb. 28, 2014 | 171 102
DOI: 10.36347/sjmcr.2014.v02i02.013
Pages: 105-107
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Abstract
Joubert syndrome and related disorders (JSRD) are group of multiple congenital anomalies syndrome with the characteristic molar tooth sign, a midbrain-hindbrain malformation visible on brain imaging. Since it has variable phenotypes it is difficult to diagnose clinically and thus underreported. Awareness needs to be created among clinicians for its early diagnosis .We report JSRD in a10 year old male child.