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. 1974 Dec;37(12):1299-1305.
doi: 10.1136/jnnp.37.12.1299.

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

P A Bhaskar, K Jagannathan, K Valmikinathan

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

P A Bhaskar et al. J Neurol Neurosurg Psychiatry. 1974 Dec.

Abstract

Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.

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