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Journal of the Korean Society of Neonatology 2004;11(2):230-235.
Published online November 1, 2004.
A Case of Neonatal Onset Joubert Syndrome.
Gun Lee, Eun Young Kim, Kyu Geun Sun, Kyoung Hee Na, Sun Young Park, Kyoung Sim Kim, Yong Wook Kim
Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. gkdudrjs@hotmail.com
신생아기에 진단된 Joubert 증후군 1례
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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.
Key Words: Joubert syndrome, Neonate


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