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Article in English | IMSEAR | ID: sea-157472

ABSTRACT

Joubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.


Subject(s)
Abnormalities, Multiple , Cerebellum/abnormalities , Cerebellar Vermis/diagnosis , Consanguinity , Eye Abnormalities/diagnosis , Humans , India , Infant , Male , Muscle Hypotonia/diagnosis , Nystagmus, Congenital/diagnosis , Ocular Motility Disorders/diagnosis , Respiration Disorders/diagnosis , Syndrome
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