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脑积水、身材高大、关节松弛和脊柱侧凸：一种新的遗传性结缔组织疾病？

Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?

作者信息

Daish P, Hardman M J, Lamont M A

机构信息

Department of Paediatrics, St Mary's Hospital, Portsmouth.

出版信息

J Med Genet. 1989 Jan;26(1):51-4. doi: 10.1136/jmg.26.1.51.

DOI:10.1136/jmg.26.1.51
PMID:2918526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015537/
Abstract

We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.

摘要

我们描述了两名患有脑积水、身材高大、关节松弛和胸腰椎后凸的姐妹。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/a652b459a246/jmedgene00051-0062-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/df93ff04326f/jmedgene00051-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/b869225ebf7c/jmedgene00051-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/a652b459a246/jmedgene00051-0062-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/df93ff04326f/jmedgene00051-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/b869225ebf7c/jmedgene00051-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39e2/1015537/a652b459a246/jmedgene00051-0062-b.jpg

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Primary myxomatous degeneration of cardiac valves. Clinical, pathological, haemodynamic, and echocardiographic profile.心脏瓣膜原发性黏液瘤样变性。临床、病理、血流动力学及超声心动图特征
Br Heart J. 1980 Dec;44(6):621-9. doi: 10.1136/hrt.44.6.621.
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Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome.症状性瓣膜黏液瘤样变性（松弛瓣膜综合征）。一种可能的马方综合征顿挫型。
Circulation. 1965 Dec;32(6):897-910. doi: 10.1161/01.cir.32.6.897.
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Articular mobility in an African population.
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).
9号染色体上结节性硬化症基因座（TSC1）侧翼标记的鉴定。
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Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.对9号染色体、11号染色体和12号染色体上三个假定的结节性硬化症决定基因座进行连锁研究。结节性硬化症协作组。
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Phenotype-genotype correlations in X linked retinitis pigmentosa.X连锁视网膜色素变性的表型-基因型相关性
J Med Genet. 1992 Sep;29(9):615-23. doi: 10.1136/jmg.29.9.615.
非洲人群的关节活动度。
Ann Rheum Dis. 1973 Sep;32(5):413-8. doi: 10.1136/ard.32.5.413.
4
Mucinous degeneration of the cardiac valves: the "floppy valve" syndrome.心脏瓣膜黏液样变性：“松软瓣膜”综合征。
J Thorac Cardiovasc Surg. 1969 Jul;58(1):62-70.