Rare case of a floppy neonate: Joubert syndrome
Current Medicine Research and Practice(2021)
摘要
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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关键词
apnoea,floppy neonate,joubert syndrome,molar tooth sign
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