• 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 malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

作者信息

Stewart R E, Funderburk S, Setoguchi Y

出版信息

Cleft Palate J. 1979 Oct;16(4):358-62.

PMID:290427
Abstract

A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).

摘要

相似文献

1
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).
Cleft Palate J. 1979 Oct;16(4):358-62.
2
The syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).缺指(趾)-外胚层发育不良-唇腭裂综合征(EEC)
J Oral Surg. 1975 Mar;33(3):192-8.
3
[Dysmaturity as symptom of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].[发育不全作为裂手裂足-外胚层发育不良-腭裂(EEC)综合征的症状]
Tijdschr Kindergeneeskd. 1993 Jun;61(3):96-9.
4
[A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].[一例EEC(缺指(趾)畸形、外胚层发育不良和唇裂)综合征病例]
Kokubyo Gakkai Zasshi. 1991 Dec;58(4):718-24. doi: 10.5357/koubyou.58.718.
5
Treatment of cleft foot deformity with a suture-button construct in the pediatric foot: a case report.小儿足部采用缝线纽扣装置治疗足裂畸形:1例病例报告
Foot Ankle Int. 2013 Sep;34(9):1299-304. doi: 10.1177/1071100713487184. Epub 2013 Apr 23.
6
Letter: Ectrodactyly, ectodermal dysplasia, and clefting syndrome.信件:缺指(趾)-外胚层发育不良-腭裂综合征
Am J Ophthalmol. 1974 May;77(5):772. doi: 10.1016/0002-9394(74)90556-x.
7
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.缺指(趾)-外胚层发育不良-腭裂综合征(EEC综合征)。一家系报告及文献复习
Clin Genet. 1976 Mar;9(3):347-53. doi: 10.1111/j.1399-0004.1976.tb01585.x.
8
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation.一名携带TP63基因突变的中国女性胎儿的缺指(趾)-外胚层发育不良-腭裂(EEC)综合征的产前诊断
Eur J Obstet Gynecol Reprod Biol. 2017 Jun;213:146-147. doi: 10.1016/j.ejogrb.2017.04.012. Epub 2017 Apr 10.
9
Ectrodactyly, ectodermal dysplasia, and cleft lip syndrome. Case report.
Scand J Plast Reconstr Surg Hand Surg. 1996 Sep;30(3):227-30. doi: 10.3109/02844319609062820.
10
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.三代人中患有EEC综合征(缺指(趾)畸形、外胚层发育不良和唇腭裂)且存在7q11.21与9p12(或7p11.2与9q12)之间平衡易位的情况。
Clin Genet. 1991 Sep;40(3):202-6. doi: 10.1111/j.1399-0004.1991.tb03077.x.

引用本文的文献

1
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.因p63基因突变导致的EEC综合征与伊藤色素减退症的罕见组合。
Eur J Pediatr. 2005 Aug;164(8):530-1. doi: 10.1007/s00431-005-1680-5. Epub 2005 May 12.