Journal of the Korean Society of Neonatology  2004;11(2):230-235

A Case of Neonatal Onset Joubert Syndrome.

Gun LEE 1 ; Eun Young KIM ; Kyu Geun SUN ; Kyoung Hee NA ; Sun Young PARK ; Kyoung Sim KIM ; Yong Wook KIM

Affiliations

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Keywords

Joubert syndrome; Neonate

Country

Republic of Korea

Language

Korean

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.