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مقاله
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Abstract
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Title:
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A Child with Joubert Syndrome: Clinical and Imaging Features
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Author(s):
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Kaveh Abri Aghdam, Mostafa Soltan Sanjari, Amin Zand
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Presentation Type:
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Poster
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Subject:
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Strabismus & Neuro-ophthalmology
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Others:
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Presenting Author:
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Name:
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Kaveh Abri Aghdam
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Affiliation :(optional)
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Eye research Center, Rassoul Akram Hospital, Iran University of Medical Sciences
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E mail:
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kaveh_abri@yahoo.com
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Phone:
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Mobile:
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9120889505
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Purpose:
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To report a case of Joubert Syndrome with clinical and imaging features
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Methods:
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The patient was a two-year-old boy with primary-position nystagmus and bilateral ptosis since approximately a year ago. He had a history of hypotonia and developmental delay.
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Results:
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The patient had primary-position nystagmus (see-saw pattern) with saccadic dysfunction. Anterior segment examinations were normal. In fundus exam, dystrophic retinal appearance was seen with optic disc coloboma of right eye and optic disc drusen of left eye with mottled pigmentation at the periphery of retina in both eyes, that was evident on fluorescein angiography
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Conclusion:
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Saccadic dysfunction and primary position nystagmus in a developmentally delayed child suggest the diagnosis of Joubert syndrome, especially if a dystrophic retinal appearance is also present.
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Attachment:
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131Joubert.pptx
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