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CASE REPORT
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
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/cmrp.cmrp_47_20

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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.


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