• 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

[Is there a syndrome of Ullrich and Feichtiger?(Author's transl)].

作者信息

Pfeiffer R A, Slavaykoff H

出版信息

Klin Padiatr. 1975 Mar;187(2):176-80.

PMID:804574
Abstract

Report on two siblings having died during the first days of life who exhibited a syndrome of polydactyly, renal aplasia and inter-sexual genitalia, and in one child an additional cleft palate and coarctation of the aorta with VSD. It shares several features with the syndrome of Smith-Lemli and Opitz. The syndrome of Ullrich and Feichtiger which had been taken into consideration earlier sould be rejected as a clinical and etiological entity.

摘要

相似文献

1
[Is there a syndrome of Ullrich and Feichtiger?(Author's transl)].
Klin Padiatr. 1975 Mar;187(2):176-80.
2
Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.简要临床报告:家族性新生儿致死性综合征,表现为左心发育不全、肺叶缺如、多指畸形和畸形足,可能为史密斯-勒米-奥皮茨(RSH)综合征。
Am J Med Genet. 1983 Mar;14(3):423-8. doi: 10.1002/ajmg.1320140304.
3
One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
Genet Couns. 1991;2(4):221-5.
4
[Two malformative syndromes possibly unifiable: Ullrich-Feichtiger and Smith-Lemli-Opitz syndromes. Case report].
Minerva Pediatr. 1969 Jan 14;21(2):56-61.
5
The Roberts syndrome.罗伯茨综合征。
Birth Defects Orig Artic Ser. 1974;10(5):87-95.
6
Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.
Am J Med Genet. 1987 Nov;28(3):723-31. doi: 10.1002/ajmg.1320280320.
7
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.22号染色体三体与面耳椎(戈尔登哈综合征)序列征。
Am J Med Genet. 1993 Apr 1;46(1):68-71. doi: 10.1002/ajmg.1320460111.
8
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome.
Am J Med Genet. 1989 Mar;32(3):380-3. doi: 10.1002/ajmg.1320320323.
9
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?
Am J Med Genet. 1987 Nov;28(3):741-3. doi: 10.1002/ajmg.1320280323.
10
Diagnosis of Smith-Lemli-Opitz syndrome.
N Engl J Med. 1994 Jun 9;330(23):1686-7.

引用本文的文献

1
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.致死性肢端生殖器发育不全:一种类似史密斯-利姆利-奥皮茨综合征的严重致死性病症。
J Med Genet. 1988 Feb;25(2):88-95. doi: 10.1136/jmg.25.2.88.