A Case of Neonatal Onset Joubert Syndrome.
- Author:
Gun LEE
1
;
Eun Young KIM
;
Kyu Geun SUN
;
Kyoung Hee NA
;
Sun Young PARK
;
Kyoung Sim KIM
;
Yong Wook KIM
Author Information
1. Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. gkdudrjs@hotmail.com
- Publication Type:Case Report
- Keywords:
Joubert syndrome;
Neonate
- MeSH:
Apnea;
Eye Movements;
Humans;
Infant, Newborn;
Muscle Hypotonia
- From:Journal of the Korean Society of Neonatology
2004;11(2):230-235
- CountryRepublic 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.
