A Case of Neonatal Onset Joubert Syndrome
Journal of the Korean Society of Neonatology
;
: 230-235, 2004.
Article
in Korean
| WPRIM
| ID: wpr-15027
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Apnea
/
Eye Movements
/
Muscle Hypotonia
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2004
Type:
Article
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