• Users Online: 1437
  • Print this page
  • Email this page
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
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/am.am_12_17

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded188    
    Comments [Add]    

Recommend this journal