Joubert syndrome related disorder (JSRD): a case report and review of literature

Seema Sharma, Ajay Sharma, Vipin Sharma, Sandesh Guleria


Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. 


Joubert, MTS, Polydactyly

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