• 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

短指畸形C型中的天使状指骨:一例报告及发病机制推测

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

作者信息

Castriota-Scanderbeg Alessandro, Garaci Francesco Giuseppe, Beluffi Giampiero

机构信息

Department of Radiology, Foundation Ospedale Card. G. Panico, via S. Pio X, 4, Tricase (Le), Italy.

出版信息

Pediatr Radiol. 2005 May;35(5):535-8. doi: 10.1007/s00247-004-1362-x. Epub 2004 Nov 23.

DOI:10.1007/s00247-004-1362-x
PMID:15565340
Abstract

We describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking 'angel-shaped' appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre.

摘要

我们描述了一位患有C型短指症的女性及其女儿。该患儿的不同寻常之处在于,一只手的食指和中指近节指骨呈现出明显的“天使形状”外观,而另一只手同一位置则出现了更典型的桡侧延长的三角形骨骺。有人认为,这种特殊的指骨形态是在儿童早期或中期,在严重骨化延迟的指骨中作为一种过渡性现象出现的,这种延迟在初级骨化中心水平最为明显。

相似文献

1
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.短指畸形C型中的天使状指骨:一例报告及发病机制推测
Pediatr Radiol. 2005 May;35(5):535-8. doi: 10.1007/s00247-004-1362-x. Epub 2004 Nov 23.
2
Brachydactyly type C.C型短指(趾)症
J Hand Surg Am. 2001 Jan;26(1):31-9. doi: 10.1053/jhsu.2001.21534.
3
Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
Am J Med Genet. 1993 Oct 1;47(5):765-71. doi: 10.1002/ajmg.1320470534.
4
Complex bilateral polysyndactyly featuring a triplet of delta phalanges in a syndactylised digit.
Eur Radiol. 2002 Dec;12 Suppl 3:S140-2. doi: 10.1007/s00330-001-1261-6. Epub 2002 Feb 2.
5
Pitfalls of genetic counselling in brachydactyly type C.
Am J Med Genet. 1994 Nov 1;53(2):199-201. doi: 10.1002/ajmg.1320530216.
6
Congenital triangular bones in the hand.手部先天性三角骨。
J Hand Surg Am. 1977 May;2(3):179-93. doi: 10.1016/s0363-5023(77)80068-3.
7
The anatomy of congenital radial dysplasia. Its surgical and functional implications.
Clin Orthop Relat Res. 1969 Sep-Oct;66:125-43.
8
The congenital triangular deformity of the tubular bones of hand and foot.
Clin Orthop Relat Res. 1971 Nov-Dec;81:139-50. doi: 10.1097/00003086-197111000-00023.
9
Two Cases of Radial Ray Deficiency With Absence of First Metacarpus and 2 Tiny Fingers.两例桡侧射线发育不全伴第一掌骨缺如及两根短小手指
Ann Plast Surg. 2019 Feb;82(2):162-165. doi: 10.1097/SAP.0000000000001612.
10
[Symbrachydactyly--a roentgenographic and clinical study of 126 cases].
Nihon Seikeigeka Gakkai Zasshi. 1984 Jul;58(7):659-76.

引用本文的文献

1
Brachydactyly.短指(趾)畸形
Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15.

本文引用的文献

1
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.由CDMP1前结构域中的纯合错义突变引起的C型短指症。
Am J Med Genet A. 2004 Feb 1;124A(4):356-63. doi: 10.1002/ajmg.a.20349.
2
Inherited brachydactyly and hypoplasia of the bones of the extremities.遗传性短指症及四肢骨骼发育不全。
Ann Hum Genet. 1963 Feb;26:201-12. doi: 10.1111/j.1469-1809.1963.tb01976.x.
3
"Angel-shaped phalanx" in a boy with oromandibular-limb hypogenesis.
Am J Med Genet A. 2003 May 15;119A(1):87-8. doi: 10.1002/ajmg.a.10200.
4
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.软骨衍生形态发生蛋白1(CDMP1)基因的移码突变与类似Grebe型软骨发育不良的严重肢端中节软骨发育不良。
Am J Med Genet. 2002 Jul 22;111(1):31-7. doi: 10.1002/ajmg.10501.
5
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).一个患有腓骨发育不全和复杂短指(Dupan综合征)的家族中软骨衍生形态发生蛋白-1(CDMP1)基因的突变。
Clin Genet. 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x.
6
Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.伴有明显颈椎管狭窄和脊髓受压的短指(趾)型点状软骨发育不良:两例报告
Pediatr Radiol. 2002 Jun;32(6):452-6. doi: 10.1007/s00247-001-0638-7. Epub 2002 Feb 2.
7
Intrafamilial clinical variability in type C brachydactyly.C型短指(趾)症的家族内临床变异性。
Genet Couns. 2001;12(4):353-8.
8
Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.肢端发育异常、伴有身材矮小的严重骨化异常以及腓骨发育不全。
Am J Med Genet. 1999 May 7;84(1):68-73. doi: 10.1002/(sici)1096-8628(19990507)84:1<68::aid-ajmg13>3.0.co;2-j.
9
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.CDMP1基因的突变会导致常染色体显性遗传的C型短指症。
Nat Genet. 1997 Sep;17(1):18-9. doi: 10.1038/ng0997-18.
10
Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2.一个新的转化生长因子-β超家族成员——人软骨衍生形态发生蛋白-1定位于染色体20q11.2 。
Genomics. 1996 May 15;34(1):150-1. doi: 10.1006/geno.1996.0257.