Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones
Open Access
- 1 December 1974
- journal article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 37 (12), 1299-1305
- https://doi.org/10.1136/jnnp.37.12.1299
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.Keywords
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