• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

伴有关节松弛的脊椎-骨骺-干骺端发育异常的表现及自然病史。

The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

作者信息

Beighton P, Gericke G, Kozlowski K, Grobler L

出版信息

Clin Genet. 1984 Oct;26(4):308-17. doi: 10.1111/j.1399-0004.1984.tb01065.x.

DOI:10.1111/j.1399-0004.1984.tb01065.x
PMID:6499247
Abstract

Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.

摘要

伴有关节松弛的脊椎骨骺干骺端发育不良（SEMDJL）的特征为严重侏儒症、关节活动过度和进行性脊柱排列不齐。对南非说非洲语社区13个家庭中18名患者的临床表现进行了分析，结果表明活到成年并不常见。SEMDJL以常染色体隐性性状遗传。

相似文献

1
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.伴有关节松弛的脊椎-骨骺-干骺端发育异常的表现及自然病史。
Clin Genet. 1984 Oct;26(4):308-17. doi: 10.1111/j.1399-0004.1984.tb01065.x.
2
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.伴关节松弛的脊椎骨骺发育不良（SEMDJL）：一例巴西病例。
Am J Med Genet. 1996 Jan 11;61(2):131-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<131::AID-AJMG5>3.0.CO;2-#.
3
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.伴有关节松弛和进行性脊柱侧凸的脊椎骨骺发育异常的影像学特征。19例病例回顾
Rofo. 1984 Sep;141(3):337-41. doi: 10.1055/s-2008-1053143.
4
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.脊柱-骨骺-干骺端发育不良伴关节松弛，EXOC6B型的确诊
Am J Med Genet A. 2018 Dec;176(12):2934-2935. doi: 10.1002/ajmg.a.40631. Epub 2018 Oct 4.
5
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.三名新生儿患有关节松弛的脊椎骨骺发育不良（SEMDJL）。
Genet Couns. 1996;7(3):219-25.
6
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.伴有关节松弛的脊椎骨骺发育异常（SEMDJL）：危地马拉一名患者的临床和放射学表现
Am J Med Genet. 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222.
7
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.伴有关节松弛的脊椎骨骺发育不良（SEMDJL）：美国两名非亲属患者的病例报告
Am J Med Genet. 1999 Sep 17;86(3):245-52.
8
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.伴有关节松弛和严重进行性脊柱侧凸的脊椎骨骺发育不良。一种具有潜在致命性的侏儒症。
S Afr Med J. 1983 Nov 5;64(20):772-5.
9
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.伴有关节松弛的脊椎骨骺发育不良（贝顿型）；八个受影响的南非家庭的突变分析
Clin Genet. 2015 May;87(5):492-5. doi: 10.1111/cge.12413. Epub 2014 May 22.
10
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.伴有关节松弛的脊椎骨骺发育异常（贝顿型）：一种独特的南非疾病。
S Afr Med J. 2016 May 25;106(6 Suppl 1):S54-6. doi: 10.7196/SAMJ.2016.v106i6.10994.

引用本文的文献

1
Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.在B3GALT6相关疾病的脊柱手术中选择实质受累椎体作为最低固定椎体：临床经验与文献综述
Orthop Surg. 2025 Jul;17(7):2025-2037. doi: 10.1111/os.70072. Epub 2025 May 15.
2
New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report.一名患有埃勒斯-当洛综合征样脊椎骨骺发育异常的中国儿童的新基因突变：病例报告。
Front Pediatr. 2022 Dec 21;10:1073748. doi: 10.3389/fped.2022.1073748. eCollection 2022.
3
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
糖胺聚糖生物合成缺陷的先天性疾病
Front Genet. 2021 Sep 3;12:717535. doi: 10.3389/fgene.2021.717535. eCollection 2021.
4
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- and Spondylodysplastic-EDS-.严重的外周关节松弛是脊柱骨骺发育不良-埃勒斯-当洛斯综合征（EDS）和脊柱骨骺发育不良-EDS 型的一个独特临床特征。
Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799.
5
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with Mutations.三例携带突变的同胞患伴关节松弛的脊椎骨骺发育异常
Mol Syndromol. 2017 Nov;8(6):303-307. doi: 10.1159/000479672. Epub 2017 Sep 7.
6
Human genetic disorders and knockout mice deficient in glycosaminoglycan.人类遗传疾病和缺乏糖胺聚糖的基因敲除小鼠。
Biomed Res Int. 2014;2014:495764. doi: 10.1155/2014/495764. Epub 2014 Jul 13.
7
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.B3GALT6 基因突变导致一系列骨骼和结缔组织疾病，该基因编码糖胺聚糖连接区酶。
Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9.
8
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.一名表现出类似脊椎骨骺发育异常关节松弛综合征表型特征的女孩，其寰椎发育不全且齿突过长。
Skeletal Radiol. 2008 May;37(5):469-73. doi: 10.1007/s00256-007-0443-y. Epub 2008 Feb 7.
9
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).MMP13基因突变导致密苏里型脊椎骨骺发育不良（SEMD(MO)）。
J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900.
10
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.一种伴有多处脱位的独特型脊椎骨骺发育异常。
J Med Genet. 1998 Jul;35(7):566-72. doi: 10.1136/jmg.35.7.566.