• 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

Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?

作者信息

Sayed M, al-Alaiyan S

机构信息

Department of Pediatrics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.

出版信息

Neuropediatrics. 1996 Aug;27(4):204-6. doi: 10.1055/s-2007-973789.

DOI:10.1055/s-2007-973789
PMID:8892371
Abstract

This article reports a full-term infant with Hirschsprung disease (HD) who was diagnosed to have hypertrophic pyloric stenosis (HPS) and agenesis of corpus callosum (ACC). Pyloric stenosis is known to be associated with HD. To our knowledge, the combination of Hirschsprung disease, hypertrophic pyloric stenosis and agenesis of corpus callosum has not been reported previously. We believe these three conditions are due to an underlying pathophysiologic mechanism.

摘要

相似文献

1
Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?
Neuropediatrics. 1996 Aug;27(4):204-6. doi: 10.1055/s-2007-973789.
2
Report of two patients with hypertrophic pyloric stenosis and Hirschsprung's disease. Coincident or common etiology?
Am Surg. 1985 Aug;51(8):480-1.
3
Spectrum of corpus callosum agenesis.胼胝体发育不全的谱系
Pediatr Neurol. 2005 Feb;32(2):94-101. doi: 10.1016/j.pediatrneurol.2004.09.007.
4
[Familial agenesis of the corpus callosum: a new form].[家族性胼胝体发育不全:一种新形式]
Arch Fr Pediatr. 1993 Apr;50(4):327-30.
5
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?无脾综合征中的胼胝体发育不全和无眼畸形。一种可识别的关联?
Ann Genet. 1997;40(1):14-7.
6
[Cerebral malformation in the newborn: holoprosencephaly and agenesis of the corpus callosum].新生儿脑畸形:前脑无裂畸形和胼胝体发育不全
Rev Neurol. 2003;36(2):179-84.
7
[Agenesis of the corpus callosum].[胼胝体发育不全]
Ugeskr Laeger. 1995 Feb 6;157(6):737-9.
8
Partial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy.一名青少年肌阵挛癫痫患者的胼胝体部分发育不全。
Epileptic Disord. 2007 Dec;9(4):461-4. doi: 10.1684/epd.2007.0129.
9
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).综合征性胼胝体发育不全(莫瓦特-威尔逊综合征)中锌指同源盒1B基因的移码突变。
Neuropediatrics. 2003 Dec;34(6):322-5. doi: 10.1055/s-2003-44671.
10
Neonatal hypertrophic pyloric stenosis: congenital or infantile?新生儿肥厚性幽门狭窄:先天性还是婴儿期发病?
Tokai J Exp Clin Med. 1996 Dec;21(4-6):203-5.

引用本文的文献

1
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.通过全基因组测序揭示最严重型先天性巨结肠症的遗传病变。
Eur J Hum Genet. 2018 Jun;26(6):818-826. doi: 10.1038/s41431-018-0129-z. Epub 2018 Feb 26.
2
Deficiency in endothelin receptor B reduces proliferation of neuronal progenitors and increases apoptosis in postnatal rat cerebellum.内皮素受体B的缺乏会减少神经元前体细胞的增殖,并增加新生大鼠小脑的细胞凋亡。
Cell Mol Neurobiol. 2008 Dec;28(8):1129-38. doi: 10.1007/s10571-008-9292-z. Epub 2008 Aug 6.
3
Hirschsprung disease, associated syndromes, and genetics: a review.
先天性巨结肠症、相关综合征与遗传学:综述
J Med Genet. 2001 Nov;38(11):729-39. doi: 10.1136/jmg.38.11.729.