蜘蛛样指（趾）、氨基酸尿症、先天性白内障、小脑共济失调及发育里程碑延迟。
Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.
作者信息
Bhaskar P A, Jagannathan K, Valmikinathan K
出版信息
J Neurol Neurosurg Psychiatry. 1974 Dec;37(12):1299-1305. doi: 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.
摘要
据报道，有两名男性表亲患有蜘蛛指、选择性氨基酸尿症、先天性白内障、小脑共济失调以及发育里程碑延迟，还有一名远房女性亲属也有类似异常。尽管该综合征与马里内斯科－舍格伦综合征和马方综合征有相似之处，但据认为此前未曾被描述过。
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