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Contractures in patients with Williams syndrome.

作者信息

Kaplan P, Kirschner M, Watters G, Costa M T

机构信息

Department of Pediatrics, Montreal Children's Hospital and Research Institute, Quebec, Canada.

出版信息

Pediatrics. 1989 Nov;84(5):895-9.

PMID:2797983
Abstract

Williams syndrome is a multisystem disorder, including a characteristic facies and habitus. Intellectual, neurologic, and cardiovascular dysfunction occur; vascular disease may be progressive. Joint contractures affected 10 of a group of 20 children and young adults. In 3 of 10 patients, the contractures were severe enough to interfere with daily activities; in 3 the effect was only moderate. The contractures developed in early childhood and usually did not improve or worsen with time. Large and small joints were affected and usually were symmetrical. Their occurrence did not correlate with vascular disease. The contractures could not be attributed to a neurologic cause.

摘要

相似文献

1
Contractures in patients with Williams syndrome.
Pediatrics. 1989 Nov;84(5):895-9.
2
[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings].[兄弟姐妹中的肌病、小脑共济失调及类似威廉姆斯综合征的特征]
Rinsho Shinkeigaku. 1994 Feb;34(2):157-62.
3
[Supravalvular aortic stenosis (Williams-Beuren syndrome). Report of a case].[瓣上主动脉狭窄(威廉姆斯-贝伦综合征)。一例报告]
Arq Bras Cardiol. 1982 Dec;39(6):399-404.
4
Williams syndrome in adults.成人威廉姆斯综合征
Am J Med Genet. 1992 Dec 1;44(6):720-9. doi: 10.1002/ajmg.1320440605.
5
[Supravalvular aortic stenosis, mental retardation, and peculiar facies].[主动脉瓣上狭窄、智力发育迟缓及特殊面容]
Pediatrie. 1971 Jun;26(4):436-7.
6
[Ocular changes in the Williams-Beuren syndrome].[威廉姆斯-贝伦综合征的眼部变化]
Cesk Oftalmol. 1991 May;47(3):178-82.
7
[Cardiovascular manifestations of the Williams-Beuren syndrome].[威廉姆斯-贝伦综合征的心血管表现]
Cesk Pediatr. 1988 Jan;43(1):19-22.
8
Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.威廉姆斯-贝伦综合征患者主动脉和肺血管病变的三十年随访
Am J Med Genet. 1994 Sep 1;52(3):297-301. doi: 10.1002/ajmg.1320520309.
9
Williams (Elfin Facies) syndrome: review of the literature and report of a rare case.威廉姆斯(小精灵面容)综合征:文献综述及一例罕见病例报告
ASDC J Dent Child. 1991 Jan-Feb;58(1):57-9.
10
Localized supravalvular aortic stenosis combined with mental retardation and peculiar facial appearance.局限性瓣上主动脉狭窄合并智力发育迟缓及特殊面容。
Acta Med Scand. 1972 Jun;191(6):517-20.

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Copy number variants at Williams-Beuren syndrome 7q11.23 region.威廉姆斯-贝伦综合征 7q11.23 区域的拷贝数变异。
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Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.α1-抗胰蛋白酶缺乏等位基因与 Williams 综合征的关节脱位和脊柱侧凸有关。
Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):299-306. doi: 10.1002/ajmg.c.30265.
7
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.通过荧光原位杂交(FISH)分析检测弹性蛋白基因座的半合子状态,作为威廉姆斯综合征经典型和非典型病例的诊断测试。
J Med Genet. 1995 Sep;32(9):692-6. doi: 10.1136/jmg.32.9.692.
8
Myopathy in Williams-Beuren syndrome.威廉姆斯-贝伦综合征中的肌病
Eur J Pediatr. 1991 May;150(7):521-6. doi: 10.1007/BF01958438.
9
Radio-ulnar synostosis in Williams syndrome. A frequently associated anomaly.威廉姆斯综合征中的桡尺骨融合。一种常见的相关异常。
Pediatr Radiol. 1991;21(7):508-10. doi: 10.1007/BF02011725.
10
De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.一名具有威廉姆斯-贝伦综合征表型特征的女孩出现新发t(X;21)(q28;q11)。
J Med Genet. 1992 Oct;29(10):747-9. doi: 10.1136/jmg.29.10.747.