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皱皮综合征:来自沙特阿拉伯的两例同胞病例报告。

The wrinkly skin syndrome: a report of two siblings from Saudi Arabia.

作者信息

Karrar Z A, Elidrissy A T, Al Arabi K, Adam K A

出版信息

Clin Genet. 1983 Apr;23(4):308-10. doi: 10.1111/j.1399-0004.1983.tb01882.x.

DOI:10.1111/j.1399-0004.1983.tb01882.x
PMID:6851222
Abstract

A brother and sister born to a Saudi couple showed aging appearance, wrinkled skin over the hands and feet, inelastic skin, prominent veins over the hands, and other musculoskeletal and connective tissue manifestations. Both children were small for their age and had congenital dislocation of the hips. The paper describes the main manifestations and compares them with the previously described two families.

摘要

一对沙特夫妇所生的兄妹呈现出衰老的外貌,手脚皮肤起皱,皮肤缺乏弹性,手部静脉突出,还有其他肌肉骨骼和结缔组织方面的表现。两个孩子的身高都低于同龄人,且患有先天性髋关节脱位。本文描述了主要表现,并将其与之前描述的两个家族进行了比较。

相似文献

1
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia.皱皮综合征:来自沙特阿拉伯的两例同胞病例报告。
Clin Genet. 1983 Apr;23(4):308-10. doi: 10.1111/j.1399-0004.1983.tb01882.x.
2
Cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases.皮肤松弛症、宫内生长迟缓与双侧髋关节脱位:5例报告
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The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family.同一家族中同胞的皮肤皱纹综合征和软骨毛发发育不全(一种新的变异型?)
Prog Clin Biol Res. 1982;104:205-14.
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Mental retardation, congenital hip dislocation, wrinkled skin of the hands and feet (a new mental retardation, multiple anomalies syndrome).
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Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.来自10个卡塔尔家庭的动脉迂曲综合征患者SLC2A10基因中编码p.Ser81Arg突变的鉴定。
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引用本文的文献

1
Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition.伴有症状性骨质疏松、皮肤皱纹和老年外观的大骨骺发育不良:一种推测为常染色体隐性遗传病。
Skeletal Radiol. 1986;15(1):47-51. doi: 10.1007/BF00355073.