Bhaskar Jagannathan syndrome

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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 cataracts, 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.

[edit] References

• Bhaskar PA, Jagannathan K, Valmikinathan K (1974). "Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones". J. Neurol. Neurosurg. Psychiatr. 37 (12): 1299–1305. PMID 4448994. 

• Bhaskar PA (1976). "Arachnodactyly, aminoaciduria, congenital cataract, cerebellar ataxia and delayed developmental milestones--a new cerebro-oculo-renal syndrome?". The Journal of the Association of Physicians of India 24 (10): 709–14. PMID 1025115.