WITHDRAWN: Joubert syndrome in siblings: A rare case report with literature review

Abstract

Abstract Joubert syndrome (JS) is a rare autosomal-recessive condition characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and multicystic kidney disease. We report a case of Joubert syndrome in two siblings who presented with delayed mental and motor milestone development, history of abnormal breathing pattern, generalized hypotonia and abnormal head movements with nystagmus. On evaluation, MRI showed hypoplastic cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the Molar tooth sign in the mid-brain confirming the diagnosis.