• 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

肾小管渗漏并发小头骨发育不良原始侏儒症。

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

作者信息

Eason J, Hall C M, Trounce J Q

机构信息

Department of Paediatrics, Royal Alexandra Hospital for Sick Children, Brighton, UK.

出版信息

J Med Genet. 1995 Mar;32(3):234-5. doi: 10.1136/jmg.32.3.234.

DOI:10.1136/jmg.32.3.234
PMID:7783178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050326/
Abstract

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months.

摘要

我们描述了一名患有I/III型小头骨发育异常原发性侏儒症的男性婴儿。他因肾小管渗漏出现了严重的骨质疏松和生化紊乱，这种情况此前在该病症中尚未有过报道。他于5个月大时死亡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/407ff389eb08/jmedgene00270-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/4e3c6149ab1c/jmedgene00270-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/3553d6990b61/jmedgene00270-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/407ff389eb08/jmedgene00270-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/4e3c6149ab1c/jmedgene00270-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/3553d6990b61/jmedgene00270-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/805f/1050326/407ff389eb08/jmedgene00270-0077-a.jpg

相似文献

1
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.肾小管渗漏并发小头骨发育不良原始侏儒症。
J Med Genet. 1995 Mar;32(3):234-5. doi: 10.1136/jmg.32.3.234.
2
Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.超声产前诊断Ⅰ/Ⅲ型小头畸形性骨发育不良原始侏儒症
Prenat Diagn. 2000 Aug;20(8):666-9. doi: 10.1002/1097-0223(200008)20:8<666::aid-pd887>3.0.co;2-l.
3
[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].
Arch Fr Pediatr. 1990 Feb;47(2):103-6.
4
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.II型小头骨发育异常原发性侏儒症中的精神分裂症：PCNT基因与精神分裂症之间关联的支持性证据
Psychiatr Genet. 2019 Apr;29(2):57-60. doi: 10.1097/YPG.0000000000000214.
5
Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.小头骨发育不良性原始侏儒症病例中的新生儿胆汁淤积和局灶性肾髓质发育异常
J Med Genet. 1998 Jan;35(1):61-4. doi: 10.1136/jmg.35.1.61.
6
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.扩大 I 型小头骨-发育不良性原基侏儒症的表型和突变谱。
Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11.
7
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.PCNT 基因中的新型移码变异与小头骨-软骨发育不良性原发侏儒症（MOPD）Ⅱ型和小肾相关。
BMC Med Genomics. 2022 Apr 14;15(1):82. doi: 10.1186/s12920-022-01226-8.
8
Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.II型小头畸形性骨发育不良性原始侏儒症。1例具有特征性骨骼表现的病例报告。
Pediatr Radiol. 1991;21(8):602-4. doi: 10.1007/BF02012613.
9
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.同胞中的Ⅰ/Ⅲ型小头畸形骨发育异常原发性侏儒症。
J Med Genet. 1991 Nov;28(11):795-800. doi: 10.1136/jmg.28.11.795.
10
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.小头骨-软骨发育不全性原始侏儒症Ⅱ型（MOPD II）患者的显著血液学异常：中心体蛋白在造血中的潜在作用。
Pediatr Blood Cancer. 2014 Feb;61(2):302-5. doi: 10.1002/pbc.24783. Epub 2013 Sep 17.

引用本文的文献

1
Studies on the Small Body Size Mouse Developed by Mutagen -Ethyl--nitrosourea.诱变剂-乙基-亚硝基脲诱导产生的小体型小鼠的研究
Toxicol Res. 2008 Mar;24(1):69-78. doi: 10.5487/TR.2008.24.1.069. Epub 2008 Mar 1.
2
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.I型头小骨发育不良性原生侏儒症，RNU4ATAC 基因存在双等位基因突变。
Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.
3
Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.

本文引用的文献

1
Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.
Am J Med Genet. 1982 May;12(1):37-42. doi: 10.1002/ajmg.1320120105.
2
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.小头畸形原发性侏儒症II的研究：原发性侏儒症的骨发育不良II型
Am J Med Genet. 1982 May;12(1):23-35. doi: 10.1002/ajmg.1320120104.
3
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.
Am J Med Genet. 1982 May;12(1):7-21. doi: 10.1002/ajmg.1320120103.
4
小头骨发育不良性原始侏儒症病例中的新生儿胆汁淤积和局灶性肾髓质发育异常
J Med Genet. 1998 Jan;35(1):61-4. doi: 10.1136/jmg.35.1.61.
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
Am J Med Genet. 1985 Jul;21(3):569-74. doi: 10.1002/ajmg.1320210318.
5
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.I型原发性骨发育不良性侏儒症伴角膜混浊：常染色体隐性遗传的证据。
Clin Genet. 1990 Nov;38(5):359-61. doi: 10.1111/j.1399-0004.1990.tb03595.x.
6
Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III.小头畸形性骨发育不良性原始侏儒症：关于所谓I型和III型同一性的进一步证据。
Am J Med Genet. 1991 May 1;39(2):232-6. doi: 10.1002/ajmg.1320390228.
7
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.同胞中的Ⅰ/Ⅲ型小头畸形骨发育异常原发性侏儒症。
J Med Genet. 1991 Nov;28(11):795-800. doi: 10.1136/jmg.28.11.795.