• 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

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

作者信息

Ellis R W, van Creveld S

出版信息

Arch Dis Child. 1940;15(82):65-84. doi: 10.1136/adc.15.82.65.

DOI:10.1136/adc.15.82.65
PMID:21032169
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1987729/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/2f775f0ad745/archdisch01465-0017-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/753451b75211/archdisch01465-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/296d6434c75a/archdisch01465-0005-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/b514f925bcda/archdisch01465-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/bce394c3380e/archdisch01465-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/6e0d8c615b7b/archdisch01465-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/44b59a308028/archdisch01465-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/42fa653ffe68/archdisch01465-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/15371c87f40f/archdisch01465-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/045be12242aa/archdisch01465-0008-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/45d0a246e3c1/archdisch01465-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/d7c47ef29dae/archdisch01465-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/5c5cde1e4483/archdisch01465-0011-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/e9ffa0264f08/archdisch01465-0011-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/4f89ac09cbab/archdisch01465-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/9e7ba36eb129/archdisch01465-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/2cb3a4d9c76f/archdisch01465-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/a644e0623cff/archdisch01465-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/bc3504b8c9ed/archdisch01465-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/f1755df4fadf/archdisch01465-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/dea972513039/archdisch01465-0017-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/2f775f0ad745/archdisch01465-0017-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/753451b75211/archdisch01465-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/296d6434c75a/archdisch01465-0005-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/b514f925bcda/archdisch01465-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/bce394c3380e/archdisch01465-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/6e0d8c615b7b/archdisch01465-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/44b59a308028/archdisch01465-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/42fa653ffe68/archdisch01465-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/15371c87f40f/archdisch01465-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/045be12242aa/archdisch01465-0008-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/45d0a246e3c1/archdisch01465-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/d7c47ef29dae/archdisch01465-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/5c5cde1e4483/archdisch01465-0011-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/e9ffa0264f08/archdisch01465-0011-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/4f89ac09cbab/archdisch01465-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/9e7ba36eb129/archdisch01465-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/2cb3a4d9c76f/archdisch01465-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/a644e0623cff/archdisch01465-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/bc3504b8c9ed/archdisch01465-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/f1755df4fadf/archdisch01465-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/dea972513039/archdisch01465-0017-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9aab/1987729/2f775f0ad745/archdisch01465-0017-c.jpg

相似文献

1
A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.一种以外胚层发育不良、多指畸形、软骨发育异常和先天性心脏病为特征的综合征：三例报告。
Arch Dis Child. 1940;15(82):65-84. doi: 10.1136/adc.15.82.65.
2
Ectodermal dysplasia, achondrodysplasia, and congenital morbus cordis.
AMA Am J Dis Child. 1951 Sep;82(3):341-4. doi: 10.1001/archpedi.1951.02040040357008.
3
Chondro-ectodermal dysplasia (Ellis-Van Creveld syndrome).
Proc R Soc Med. 1951 Aug;44(8):731-2.
4
Chondroectodermal dysplasia: a case report.
J Indian Soc Pedod Prev Dent. 2001 Sep;19(3):103-6.
5
Ellis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings.
Kathmandu Univ Med J (KUMJ). 2008 Apr-Jun;6(2):220-2.
6
Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.一名突尼斯儿童因艾森曼格综合征而被诊断出患有埃利斯-范克里夫德综合征。
Int J Pediatr Adolesc Med. 2015 Sep-Dec;2(3-4):161-165. doi: 10.1016/j.ijpam.2015.08.004. Epub 2015 Nov 21.
7
[The Ellis-van Creveld syndrome. A form of chondro-ectodermal dysplasia. Discussion of the limitations of the disorder].
Bibl Paediatr. 1960;73:1-59.
8
"New" ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet.
Am J Med Genet. 1989 Oct;34(2):227-9. doi: 10.1002/ajmg.1320340219.
9
Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.伴有先天性无指纹症的外胚层发育不良（巴萨恩综合征）：两例伴有广泛性先天性粟丘疹的病例报告。
Pediatr Dermatol. 2021 Mar;38(2):530-532. doi: 10.1111/pde.14512. Epub 2021 Jan 24.
10
Chondroectodermal dysplasia: a rare syndrome.软骨外胚层发育不良：一种罕见综合征。
J Dent (Tehran). 2014 May;11(3):361-4. Epub 2014 May 31.

引用本文的文献

1
Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.埃利斯-范克里维尔德综合征：一例罕见病例报告，重点关注骨骼表现
J Orthop Case Rep. 2025 Jan;15(1):36-40. doi: 10.13107/jocr.2025.v15.i01.5116.
2
A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.埃利斯-范克里夫德综合征病例报告：临床、胚胎学、麻醉及手术方面的影响
Indian J Plast Surg. 2024 Nov 8;57(Suppl 1):S106-S110. doi: 10.1055/s-0044-1793845. eCollection 2024 Dec.
3
Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report.

本文引用的文献

1
A Hereditary Ectodermal Dystrophy.一种遗传性外胚层发育不良
Can Med Assoc J. 1929 Jul;21(1):18-31.
埃利斯-范克里夫德综合征成年患者下肢畸形的矫正：一例罕见病例报告
J Surg Case Rep. 2024 Oct 11;2024(10):rjae648. doi: 10.1093/jscr/rjae648. eCollection 2024 Oct.
4
Elevated WNT signaling and compromised Hedgehog signaling due to loss of function contribute to the abnormal molar patterning.由于功能丧失导致的WNT信号通路增强和Hedgehog信号通路受损，促成了磨牙模式异常。
Front Dent Med. 2022;3. doi: 10.3389/fdmed.2022.876015. Epub 2022 Aug 1.
5
A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.一名患有埃利斯-范克里维尔德综合征的2岁女性出现轴后多指畸形的罕见病例。
J Hand Surg Glob Online. 2023 Sep 20;5(6):852-855. doi: 10.1016/j.jhsg.2023.08.007. eCollection 2023 Nov.
6
Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes.招募转录因子 ETS1 到激活的可及区域促进纤毛基因的转录程序。
Nucleic Acids Res. 2023 Jul 21;51(13):6684-6701. doi: 10.1093/nar/gkad506.
7
Identification of Compound Heterozygous Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.鉴定两个患有 Ellis-van Creveld 综合征的墨西哥家系中复合杂合基因突变。
Genes (Basel). 2023 Apr 9;14(4):887. doi: 10.3390/genes14040887.
8
Cranial Base Synchondrosis: Chondrocytes at the Hub.颅底骺软骨：软骨细胞的中心。
Int J Mol Sci. 2022 Jul 15;23(14):7817. doi: 10.3390/ijms23147817.
9
Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.埃利斯-范克里弗德综合征女童合并房室间隔缺损的双孔二尖瓣修复术
Clin Case Rep. 2022 May 18;10(5):e05888. doi: 10.1002/ccr3.5888. eCollection 2022 May.
10
Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.伊朗的埃利斯-范克里维尔德综合征：一例报告及对中东地区伊朗病例的综述
Acta Med Litu. 2021;28(2):317-324. doi: 10.15388/Amed.2021.28.2.11. Epub 2021 Aug 20.