• 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

股骨远端重复和腓骨缺如伴先天性心脏缺损。

Distal femoral duplication and fibular agenesis associated with congenital cardiac defect.

机构信息

Faculty of Medicine, Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey.

出版信息

Indian J Pediatr. 2010 Feb;77(2):210-1. doi: 10.1007/s12098-009-0228-5. Epub 2009 Dec 11.

DOI:10.1007/s12098-009-0228-5
PMID:20012802
Abstract

A newborn, who had the congenital anomalies including protuberance on the right lower leg, bilateral equinovarus deformity of the feet, genu valgum with knee flexion deformity, syndactyly between the first and the second digit on the right, in addition with the absence of the fifth digit. Echocardiography revealed a secundum type atrial septal defect. The combination of these congenital defects associated with developmental anomalies of lower extremities. We discuss the clinical, radiological findings and pathogenesis of this lower extremity malformation.

摘要

一名新生儿,其先天性畸形包括右小腿突起、双脚内翻足畸形、膝内翻伴膝关节屈曲畸形、右侧第一和第二指蹼间并指,以及第五指缺失。超声心动图显示继发孔型房间隔缺损。这些先天性缺陷与下肢发育异常相结合。我们讨论了这种下肢畸形的临床、影像学发现和发病机制。

相似文献

1
Distal femoral duplication and fibular agenesis associated with congenital cardiac defect.股骨远端重复和腓骨缺如伴先天性心脏缺损。
Indian J Pediatr. 2010 Feb;77(2):210-1. doi: 10.1007/s12098-009-0228-5. Epub 2009 Dec 11.
2
Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report.股骨近端局灶性缺损合并腓骨重复与双足畸形及胫骨完全缺如:一例报告
J Pediatr Orthop B. 2017 Jul;26(4):358-361. doi: 10.1097/BPB.0000000000000396.
3
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields.
Am J Med Genet. 1989 Jun;33(2):161-4. doi: 10.1002/ajmg.1320330203.
4
Upper extremity anomalies in children with femoral and fibular deficiency.儿童股骨和腓骨发育不良的上肢异常。
J Pediatr Orthop B. 2020 Jul;29(4):399-402. doi: 10.1097/BPB.0000000000000629.
5
Fibula dimelia in association with ipsilateral proximal focal femoral deficiency, tibial deficiency, and polydactyly. A case report.
Clin Orthop Relat Res. 1990 Sep(258):237-41.
6
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.股骨近端局灶性缺损(PFFD)和腓骨发育不全/发育不良(FA/H):一种发育场缺陷模型
Am J Med Genet. 1995 Feb 13;55(4):427-32. doi: 10.1002/ajmg.1320550409.
7
A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies.一例伴有近端股骨局限性缺损(PFFD)和腓骨发育不全(FA/H)并伴有泌尿生殖系统异常的病例。
Turk J Pediatr. 2006 Oct-Dec;48(4):380-2.
8
Tibial and fibular developmental fields defects.胫腓骨发育区域缺陷。
Eur Radiol. 1999;9(9):1879-81. doi: 10.1007/s003300050940.
9
Congenital reduplication of the femur associated with paraxial fibular hemimelia. Report of a case.先天性股骨重复畸形伴近轴腓骨半侧发育不全。病例报告。
J Bone Joint Surg Am. 1978 Jun;60(4):554-5.
10
Correction of Genu Valgum in Patients With Congenital Fibular Deficiency.
J Pediatr Orthop. 2020 Aug;40(7):367-372. doi: 10.1097/BPO.0000000000001543.

引用本文的文献

1
A Case of Isolated Bilateral Femoral Bifurcation in Saudi Arabia.沙特阿拉伯一例孤立性双侧股动脉分叉病例。
Cureus. 2023 Jan 16;15(1):e33816. doi: 10.7759/cureus.33816. eCollection 2023 Jan.
2
Femoral bifurcation and bilateral tibial hemimelia: case report.股动脉分叉及双侧胫骨半肢畸形:病例报告
Pan Afr Med J. 2018 Jun 5;30:99. doi: 10.11604/pamj.2018.30.99.11969. eCollection 2018.

本文引用的文献

1
Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies.一名患有股骨分叉及其他多种先天性异常的男孩出现近端8号染色体q臂缺失。
Am J Med Genet A. 2004 May 15;127A(1):65-68. doi: 10.1002/ajmg.a.20626.
2
Radiographic characteristics of lower-extremity bowing in children.儿童下肢弓形弯曲的影像学特征
Radiographics. 2003 Jul-Aug;23(4):871-80. doi: 10.1148/rg.234025149.
3
Association of fibular hemimelia and clubfoot.腓骨半肢畸形与马蹄内翻足的关联
J Pediatr Orthop. 2002 Jul-Aug;22(4):522-5.
4
Tibial and fibular developmental fields defects.胫腓骨发育区域缺陷。
Eur Radiol. 1999;9(9):1879-81. doi: 10.1007/s003300050940.
5
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.胫骨发育不全合并缺指/趾畸形/戈洛普-沃尔夫冈复合体,伴有先天性心脏畸形和其他骨骼异常。
Am J Med Genet. 1999 Jun 4;84(4):361-4.
6
Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field.
Am J Med Genet. 1998 Apr 1;76(4):297-305.
7
Fibular a/hypoplasia: review and documentation of the fibular developmental field.
Am J Med Genet Suppl. 1986;2:215-38. doi: 10.1002/ajmg.1320250626.
8
Congenital bifid femur.先天性双叉股骨。
Acta Orthop Scand. 1976 Aug;47(4):419-22. doi: 10.3109/17453677608988713.