• Users Online: 42
  • Print this page
  • Email this page
Year : 2021  |  Volume : 11  |  Issue : 1  |  Page : 47-49

Rare case of a floppy neonate: Joubert syndrome

1 Department of Neonatology, BLK Superspeciality Hospital, Delhi, India
2 Pediatric Neurology, Centre for Child Health, BLK Superspeciality Hospital, Delhi, India
3 Department of Pediatrics, Columbia Asia Hospital, Gurugram, Haryana, India

Correspondence Address:
Dr. Kumar Ankur
Department of Neonatology, BLK Super Speciality Hospital, Delhi
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cmrp.cmrp_47_20

Rights and Permissions

Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures. On physical examination, baby was alert; however, on neurological evaluation, there was generalised hypotonia with panting of dog-like breathing. Magnetic resonance imaging of the brain finding revealed typical molar tooth sign suggestive of Joubert syndrome and fundus examination revealed retinal colobomas.

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 Downloaded1    
    Comments [Add]    

Recommend this journal