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CASE REPORT
Year : 2017  |  Volume : 14  |  Issue : 3  |  Page : 185-187

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


Department of Paediatrics, South Hospital Complex, Dharmaram College Post (Near Nimhans), Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India

Correspondence Address:
Venkatesh Murthy Dammaningala Venkataramaiah
No 374, Venkateshwara Nilaya, 5th Main Road, 3 Road Block, 3rd Stage, Basaveshwaranagar, Bengaluru - 560 079, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/am.am_12_17

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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 JS 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, magnetic resonance imaging showed hypoplastic cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar tooth sign” in the midbrain, confirming the diagnosis.


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