• 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

Incomplete forms of Beckwith-Wiedemann syndrome: report of a case.

作者信息

Chan K C, Cheung W K, Chen Y C

机构信息

Department of Diagnostic Radiology, Taipei Municipal Chung-Hsiao Hospital, Taiwan, R.O.C.

出版信息

J Formos Med Assoc. 1994 Sep;93(9):813-5.

PMID:7735014
Abstract

Beckwith-Wiedemann syndrome is a rare disease characterized by a constellation of congenital and time-dependent abnormalities such as defects of the abdominal wall, gigantism, craniofacial dysmorphism, visceromegaly and hemihypertrophy. The syndrome is divided into complete and incomplete forms and, as it may only have subtle phenotypic features, it is easily neglected by clinicians. Patients with this syndrome, particularly those associated with hemihypertrophy, have a high risk of growing malignant tumors. This is a case report of a patient with an incomplete form of this syndrome with left hemihypertrophy, hepatosplenomegaly and a small right adrenal cystic lesion.

摘要

相似文献

1
Incomplete forms of Beckwith-Wiedemann syndrome: report of a case.
J Formos Med Assoc. 1994 Sep;93(9):813-5.
2
A review of the urologic manifestations of Beckwith-Wiedemann syndrome.贝克威思-威德曼综合征的泌尿系统表现综述。
J Pediatr Urol. 2011 Apr;7(2):140-4. doi: 10.1016/j.jpurol.2010.06.003. Epub 2010 Jul 16.
3
Adrenal masses associated with Beckwith Wiedemann syndrome in the newborn.新生儿中与贝克威思-维德曼综合征相关的肾上腺肿块。
Afr J Paediatr Surg. 2010 Sep-Dec;7(3):209-10. doi: 10.4103/0189-6725.70431.
4
[The Wiedemann-Beckwith syndrome and a congenital cataract].[威德曼-贝克威思综合征与先天性白内障]
J Fr Ophtalmol. 2001 May;24(5):479-81.
5
Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature.胰腺母细胞瘤合并不完全性贝克威思-维德曼综合征:病例报告及文献复习
J Pediatr Surg. 2005 Aug;40(8):1341-4. doi: 10.1016/j.jpedsurg.2005.05.025.
6
Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: an emerging association.贝克威思-维德曼综合征中的先天性胰腺母细胞瘤:一种新出现的关联。
Pediatr Pathol. 1988;8(3):331-9. doi: 10.3109/15513818809042976.
7
Beckwith-Wiedemann syndrome and Chiari I malformation--a case-based review of central nervous system involvement in hemihypertrophy syndromes.贝克威思-维德曼综合征与Chiari I型畸形——基于病例的半身肥大综合征中枢神经系统受累情况综述
Childs Nerv Syst. 2015 May;31(5):637-41. doi: 10.1007/s00381-015-2642-5. Epub 2015 Feb 17.
8
Cystic adrenal masses in the neonate associated with hemihypertrophy and the relation to the Beckwith-Wiedemann syndrome.
J Urol. 1991 Aug;146(2 ( Pt 2)):580-2. doi: 10.1016/s0022-5347(17)37861-8.
9
Bilateral adrenal cysts and ectopic pancreatic tissue in Beckwith-Wiedemann syndrome: is a conservative approach acceptable?贝克威思-维德曼综合征中的双侧肾上腺囊肿和异位胰腺组织:保守治疗方法是否可行?
J Pediatr Endocrinol Metab. 2004 Jun;17(6):909-12. doi: 10.1515/jpem.2004.17.6.909.
10
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.贝克威思-维德曼综合征综述:新生儿护士指南
Neonatal Netw. 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129.

引用本文的文献

1
Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.伴有IC2(KvDMR1)低甲基化缺陷的贝克威思-维德曼综合征:一种新的突变。
BMJ Case Rep. 2018 Mar 30;2018:bcr-2017-222419. doi: 10.1136/bcr-2017-222419.