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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.

DOI:10.1136/jnnp.37.12.1299
PMID:4448994
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1083643/
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/bcf8b94d1e16/jnnpsyc00198-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/eadee2f4df2a/jnnpsyc00198-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/4aab548e17a1/jnnpsyc00198-0010-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/2f047ed02697/jnnpsyc00198-0010-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/bf7bb1828dd3/jnnpsyc00198-0011-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/561fb083c740/jnnpsyc00198-0011-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/3a3200c37406/jnnpsyc00198-0011-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/bcf8b94d1e16/jnnpsyc00198-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/eadee2f4df2a/jnnpsyc00198-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/4aab548e17a1/jnnpsyc00198-0010-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/2f047ed02697/jnnpsyc00198-0010-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/bf7bb1828dd3/jnnpsyc00198-0011-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/561fb083c740/jnnpsyc00198-0011-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/3a3200c37406/jnnpsyc00198-0011-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0c/1083643/bcf8b94d1e16/jnnpsyc00198-0012-a.jpg

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Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.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。
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引用本文的文献

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Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.一对兄妹患马茨索夫综合征：临床特征及遗传模式
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本文引用的文献

1
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.有机酸尿症、肾脏氨生成减少、眼球积水和智力迟钝；一种临床病症。
AMA Am J Dis Child. 1952 Feb;83(2):164-84. doi: 10.1001/archpedi.1952.02040060030004.
2
Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.伴有先天性白内障和智力发育迟缓的遗传性先天性脊髓小脑共济失调；一项遗传学和临床研究。
Confin Neurol. 1950;10(5):293-308.
3
CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS.
两姐妹患先天性白内障、肾小管坏死和脑病
Arch Dis Child. 1963 Oct;38(201):505-15. doi: 10.1136/adc.38.201.505.
4
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome.小脑共济失调、先天性白内障以及躯体和智力发育迟缓。马里内斯科－舍格伦综合征病例报告。
Neurology. 1962 Dec;12:836-47. doi: 10.1212/wnl.12.12.836.
5
[Heredo ataxia, cataract and oligophrenia (Marinesco-Sjögren syndrome)].[遗传性共济失调、白内障和智力发育不全（马里内斯科－舍格伦综合征）]
Rev Neurol (Paris). 1958 Jun;98(6):777-81.
6
Oligophrenia, cerebellar ataxia and cataract; the syndrome of Marinesco-Garland.智力发育迟缓、小脑共济失调和白内障；马里内斯科－加兰德综合征。
Am J Ment Defic. 1957 Apr;61(4):719-24.
7
An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.一种极其罕见的隐性遗传综合征，包括小脑共济失调、智力发育迟缓、白内障及其他特征。
J Neurol Neurosurg Psychiatry. 1953 May;16(2):110-6. doi: 10.1136/jnnp.16.2.110.
8
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.同型胱氨酸尿症。一种最近发现的导致智力缺陷和脑血管血栓形成的病因。
Neurology. 1966 Apr;16(4):407-20. doi: 10.1212/wnl.16.4.407.
9
Lowe's syndrome.洛氏综合征。
Neurology. 1966 Feb;16(2):115-22. doi: 10.1212/wnl.16.2_part_1.115.
10
[On the Marinesco-Sjogren syndrome. (Observations on 2 familial cases)].[关于马里内斯科-舍格伦综合征。（对2例家族性病例的观察）]
G Psichiatr Neuropatol. 1965;93(2):667-81.