J Korean Soc Neonatol.
2004 Nov;11(2):230-235.
A Case of Neonatal Onset Joubert Syndrome
- Affiliations
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- 1Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. gkdudrjs@hotmail.com
Abstract
- Joubert syndrome is a rare autosomal recessive disorder characterized by cerebellar vermian hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns and abnormal eye movements. It is usually diagnosed during infancy or thereafter by hypotonia and developmental delay. We experienced a case of Joubert syndrome presenting in newborn period manifesting as unexplainable episodic hyperpnea and apnea.
