• 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

I型口面指综合征伴多囊肾和胼胝体发育不全。

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

作者信息

Connacher A A, Forsyth C C, Stewart W K

出版信息

J Med Genet. 1987 Feb;24(2):116-8. doi: 10.1136/jmg.24.2.116.

DOI:10.1136/jmg.24.2.116
PMID:3560170
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049904/
Abstract

We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus callosum. She had chronic renal failure requiring maintenance dialysis and significant neurological deficits. Her mother had less severe OFD I associated with polycystic kidneys but her renal function was normal and there was no clinical or radiological evidence of a structural abnormality of the brain.

摘要

我们报告了一例I型口面指综合征（OFD I）女性患者，该患者伴有多囊肾和胼胝体发育不全。她患有慢性肾衰竭，需要维持性透析，并有明显的神经功能缺损。她的母亲患有较轻的与多囊肾相关的OFD I，但肾功能正常，且没有临床或影像学证据表明存在脑部结构异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/35fb78e479eb/jmedgene00076-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/52ead0458718/jmedgene00076-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/31e1a145fc3d/jmedgene00076-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/35fb78e479eb/jmedgene00076-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/52ead0458718/jmedgene00076-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/31e1a145fc3d/jmedgene00076-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7354/1049904/35fb78e479eb/jmedgene00076-0053-b.jpg

相似文献

1
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.I型口面指综合征伴多囊肾和胼胝体发育不全。
J Med Genet. 1987 Feb;24(2):116-8. doi: 10.1136/jmg.24.2.116.
2
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.一名患有I型口面指综合征患者的多囊肾病。
Clin Genet. 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x.
3
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease.
Nephrol Dial Transplant. 1997 May;12(5):1040-2. doi: 10.1093/ndt/12.5.1040.
4
[FG syndrome: report of 4 cases with agenesis of the corpus callosum].[FG综合征：4例胼胝体发育不全的报告]
Rev Chil Pediatr. 1986 Nov-Dec;57(6):531-6.
5
[2 cases of polycystic kidney in adults associated with the oral-facial-digital syndrome (proceedings)].2例成人多囊肾合并口面指综合征（会议论文）
J Urol Nephrol (Paris). 1978 Dec;84(12):892-3.
6
[Orofaciodigital syndrome].[口面指综合征]
Med Cutan Ibero Lat Am. 1985;13(3):197-200.
7
[Orofaciodigital syndrome type I in a mother and daughter].[母女患I型口面指综合征]
An Esp Pediatr. 1988 Jan;28(1):59-62.
8
[Association of polycystic kidney and orofaciodigital syndrome].多囊肾与口面指综合征的关联
Nouv Presse Med. 1978 Jan 14;7(2):122.
9
Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.口腔-面-指综合征VII即口腔-面-指综合征I：一项澄清。
Am J Med Genet A. 2003 Dec 1;123A(2):179-82. doi: 10.1002/ajmg.a.20215.
10
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.表现为成人多囊肾病的I型家族性口面指综合征
J Med Genet. 1987 Feb;24(2):84-7. doi: 10.1136/jmg.24.2.84.

引用本文的文献

1
Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1.妊娠期出现的囊性肾病：1型口面指综合征的一种新表现形式。
NDT Plus. 2008 Feb;1(1):23-25. doi: 10.1093/ndtplus/sfm012. Epub 2007 Dec 19.
2
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.在 30 个 1 型或面指综合征家系中发现包括整个 OFD1 基因突变，包括缺失：广泛临床变异性研究。
Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
3
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

本文引用的文献

1
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.一个患有口面指综合征的家族的研究。
N Engl J Med. 1964 Nov 19;271:1073-8. doi: 10.1056/NEJM196411192712101.
2
[Abnormalities of the buccal frena].[颊系带异常]
Actual Odontostomatol (Paris). 1954 Mar;8(25):7-26.
3
The oral-facial-digital syndromes reviewed: the role of computerized axial tomography in management.口腔 - 面 - 指综合征综述：计算机断层扫描在其治疗中的作用
肝胰腺纤维囊性疾病；X 连锁纤毛病口面指综合征 1 型（OFD I）的未被充分认识的特征。
Am J Med Genet A. 2010 Oct;152A(10):2640-5. doi: 10.1002/ajmg.a.33666.
4
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.OFD1蛋白的功能特性揭示了其核定位以及与染色质重塑复合体亚基的物理相互作用。
Mol Biol Cell. 2007 Nov;18(11):4397-404. doi: 10.1091/mbc.e07-03-0198. Epub 2007 Aug 29.
5
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.NFIA基因单倍剂量不足与一种中枢神经系统畸形综合征及泌尿系统缺陷相关。
PLoS Genet. 2007 May 25;3(5):e80. doi: 10.1371/journal.pgen.0030080.
6
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.OFD1基因的新型双缺失突变产生多种新型转录本。
Hum Genet. 2004 Jul;115(2):97-103. doi: 10.1007/s00439-004-1139-1. Epub 2004 Jun 2.
7
Identification of the gene for oral-facial-digital type I syndrome.I型口面指综合征基因的鉴定。
Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13.
8
Absence makes the search grow longer.求之不得，寤寐思服。
Am J Hum Genet. 1996 Jan;58(1):7-16.
9
A male with type I orofaciodigital syndrome.一名患有I型口面指综合征的男性。
J Med Genet. 1991 Oct;28(10):691-4. doi: 10.1136/jmg.28.10.691.
10
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.一名患有单侧胫骨假关节的女孩的I型口面指综合征。
J Med Genet. 1992 Nov;29(11):827-30. doi: 10.1136/jmg.29.11.827.
Ariz Med. 1980 Apr;37(4):261-4.
4
Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.伴有多囊肾和肝的口面指综合征：病理和细胞遗传学研究
J Med Genet. 1966 Jun;3(2):145-7. doi: 10.1136/jmg.3.2.145.
5
[The oro-facial-digital syndrome. Symptoms and prognosis].[口面指综合征。症状与预后]
Z Kinderheilkd. 1972;112(1):89-112.
6
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.一名患有I型口面指综合征患者的多囊肾病。
Clin Genet. 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x.
7
[Association of polycystic kidney and orofaciodigital syndrome].多囊肾与口面指综合征的关联
Nouv Presse Med. 1978 Jan 14;7(2):122.