A girl with abnormal head and eye movements: Joubert syndrome (2005:3b).
case_report · Level V
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Abstract
We describe a mentally retarded patient with developmental delay, abnormal head and eye movements with suspected blindness and episodes of abnormal breathing. Subsequent CT and MRI were performed to reach to the final diagnosis. The clinical history and the imaging findings were classical for Joubert syndrome.
Medical subject headings
- Abnormalities, Multiple
- Cerebellar Ataxia
- Cerebellum
- Ocular Motility Disorders