• 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

Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.

作者信息

Dignan P S, Martin L W, Zenni E J

出版信息

Clin Genet. 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x.

DOI:10.1111/j.1399-0004.1986.tb01244.x
PMID:3955870
Abstract

A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her mother had a subsequent pregnancy that resulted in the delivery at 26 weeks, of a stillborn female fetus with cleft palate, index finger anomalies and congenital heart disease. These two patients are the first females reported with this group of anomalies. The etiology of this combination of malformations, the Catel-Manzke syndrome, is unknown.

摘要

相似文献

1
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.
Clin Genet. 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x.
2
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.与中指和拇趾其他畸形相关的TGDS突变:胎儿中的非典型卡特-曼兹克综合征
Am J Med Genet A. 2017 Jun;173(6):1694-1697. doi: 10.1002/ajmg.a.38209. Epub 2017 Apr 19.
3
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?
Am J Med Genet. 1993 Apr 15;46(2):176-9. doi: 10.1002/ajmg.1320460215.
4
The Catel-Manzke syndrome in a female infant.
Genet Couns. 1998;9(3):187-90.
5
Catel-Manzke syndrome: two new patients and a critical review of the literature.卡特-曼兹克综合征:两例新病例及文献综述
Eur J Med Genet. 2008 Sep-Oct;51(5):452-65. doi: 10.1016/j.ejmg.2008.03.005. Epub 2008 Apr 11.
6
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.TGDS 致病性变异导致无多指畸形的 Catel-Manzke 综合征。
Am J Med Genet A. 2020 Mar;182(3):431-436. doi: 10.1002/ajmg.a.61419. Epub 2019 Nov 25.
7
Catel-Manzke syndrome without Manzke dysostosis.无 Manzke 发育不全的 Catel-Manzke 综合征。
Am J Med Genet A. 2020 Mar;182(3):437-440. doi: 10.1002/ajmg.a.61436. Epub 2019 Dec 12.
8
Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature.
Clin Genet. 1982 Jun;21(6):407-10. doi: 10.1111/j.1399-0004.1982.tb01395.x.
9
[Catel-Manzke syndrome].[卡特-曼茨克综合征]
Klin Padiatr. 1990 Jan-Feb;202(1):60-3. doi: 10.1055/s-2007-1025488.
10
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in .卡特 - 曼茨克综合征:与……致病性变异相关表型的进一步描述
Mol Genet Metab Rep. 2015 Sep 1;4:89-91. doi: 10.1016/j.ymgmr.2015.08.003.

引用本文的文献

1
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.TGDS 中的纯合子和复合杂合突变导致 Catel-Manzke 综合征。
Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004.
2
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature.一名患有德斯布瓦发育不全的女孩出现睑裂狭小、卷曲睫毛和蹼状颈:病例报告及文献复习
Cases J. 2009 Sep 15;2:7873. doi: 10.4076/1757-1626-2-7873.