Bhaskar Jagannathan syndrome
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2008-05-28T17:39:46Z
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'''Bhaskar Jagannathan syndrome''' is an extremely rare genetic disorder that is characterized by the constellation of features like [[arachnodactyly]], [[aminoaciduria]], [[congenital]] [[cataract]]s, [[ataxia|cerebellar ataxia]], and delayed [[developmental milestones]]. When the entity was initially reported, the author raised the question if it could be a new cerebro-oculo-renal syndrome.
==References==
* {{cite journal |author=Bhaskar PA, Jagannathan K, Valmikinathan K |title=Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones |journal=J. Neurol. Neurosurg. Psychiatr. |volume=37 |issue=12 |pages=1299–1305 |year=1974 |pmid=4448994 |doi=}}
* {{cite journal |author=Bhaskar PA |title=Arachnodactyly, aminoaciduria, congenital cataract, cerebellar ataxia and delayed developmental milestones--a new cerebro-oculo-renal syndrome? |journal=The Journal of the Association of Physicians of India |volume=24 |issue=10 |pages=709–14 |year=1976 |pmid=1025115 |doi=}}
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[[Category:Congenital disorders]]
[[Category:Genetic disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes]]