• 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

Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?

作者信息

Hardikar W, Smith A L, Keith C G, Chow C W

机构信息

Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.

出版信息

Am J Med Genet. 1992 Sep 1;44(1):13-7. doi: 10.1002/ajmg.1320440105.

DOI:10.1002/ajmg.1320440105
PMID:1519643
Abstract

A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum.

摘要

相似文献

1
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?
Am J Med Genet. 1992 Sep 1;44(1):13-7. doi: 10.1002/ajmg.1320440105.
2
Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.哈迪卡尔综合征:一种伴有唇腭裂、色素性视网膜病变和胆汁淤积的新综合征。
Am J Med Genet. 1997 Sep 5;71(4):472-4. doi: 10.1002/(sici)1096-8628(19970905)71:4<472::aid-ajmg19>3.0.co;2-d.
3
Hardikar syndrome: new features.哈迪卡尔综合征:新特征
Am J Med Genet A. 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266.
4
Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.两例患有唇腭裂的沃克-沃伯格综合征同胞。
Am J Med Genet. 1987 Jul;27(3):537-41. doi: 10.1002/ajmg.1320270306.
5
Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome.两例同胞患儿出现腓骨和尺骨缺如、少指(趾)畸形、挛缩、股骨直角弯曲、面部形态异常、唇腭裂及脑畸形:一种可能的新型致死性综合征。
Am J Med Genet. 1988 Apr;29(4):901-8. doi: 10.1002/ajmg.1320290422.
6
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?腭裂侧粘连综合征:对弗林斯综合征表型谱的深入了解?
Birth Defects Res A Clin Mol Teratol. 2003 Jun;67(6):460-6. doi: 10.1002/bdra.10048.
7
Understanding cleft lip and palate. 1: an overview.了解唇腭裂。1:概述。
J Fam Health Care. 2009;19(3):101-3.
8
[Van-der-Woude Syndrome].[范德伍迪综合征]
Klin Padiatr. 2008 Jan-Feb;220(1):26-8. doi: 10.1055/s-2007-971049. Epub 2007 Dec 20.
9
Laryngeal cleft: report of eight patients and a review of the literature.喉裂:8例患者报告及文献综述
Am J Med Genet. 1985 May;21(1):61-75. doi: 10.1002/ajmg.1320210110.
10
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.先天性挛缩、外胚层发育不良、唇腭裂和发育障碍:一种独特的综合征。
Am J Med Genet. 1993 Sep 15;47(4):550-5. doi: 10.1002/ajmg.1320470422.

引用本文的文献

1
Syndromic variants of biliary atresia.胆道闭锁的综合征型变异
World J Pediatr Surg. 2025 Jun 8;8(3):e001040. doi: 10.1136/wjps-2025-001040. eCollection 2025.
2
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.MED12功能丧失变体是患有哈迪卡尔综合征和非特异性智力障碍的女性先天性膈疝的病因。
Am J Med Genet A. 2025 Jan;197(1):e63868. doi: 10.1002/ajmg.a.63868. Epub 2024 Aug 30.
3
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
MED12 相关的 Hardikar 综合征:两例新增病例及新的表型特征。
Am J Med Genet A. 2022 Jul;188(7):2231-2236. doi: 10.1002/ajmg.a.62756. Epub 2022 Apr 6.
4
Kabuki make-up syndrome.歌舞伎综合征
Indian J Pediatr. 2004 Sep;71(9):857-9. doi: 10.1007/BF02730729.