• 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

Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus.

作者信息

de Sierra T M, Ashmead G, Bilenker R

机构信息

Division of Neonatology, MetroHealth Medical Center, Case Western Reserve University, Cleveland, Ohio 44109-1998.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):555-7. doi: 10.1002/ajmg.1320440504.

DOI:10.1002/ajmg.1320440504
PMID:1481807
Abstract

We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity.

摘要

相似文献

1
Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus.
Am J Med Genet. 1992 Nov 15;44(5):555-7. doi: 10.1002/ajmg.1320440504.
2
Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk.超声检查发现一名中期妊娠胎儿存在镜像右位心、室间隔缺损和III型短肋多指综合征(Verma-Naumoff型),该胎儿之前未被认为有风险。
Ultrasound Obstet Gynecol. 2002 Jun;19(6):629-31. doi: 10.1046/j.1469-0705.2002.00731_4.x.
3
Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.
Am J Med Genet. 1995 Jan 30;55(3):279-84. doi: 10.1002/ajmg.1320550307.
4
Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation.孕13周时经阴道超声诊断短肋多指发育不良
Prenat Diagn. 1998 Nov;18(11):1198-201.
5
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.胎儿存在 DYNC2H1 复合杂合变异,患有 III 型短肋-并指(趾)综合征和全内脏反位。
BMC Med Genomics. 2022 Mar 12;15(1):55. doi: 10.1186/s12920-022-01205-z.
6
Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.孕中期三维超声评估II型短肋多指综合征:一例报告
Ultrasound Obstet Gynecol. 2002 Jan;19(1):88-91. doi: 10.1046/j.0960-7692.2001.00521.x.
7
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys.马耶夫斯基综合征(短肋多指综合征II型):软骨生长板、肝脏和肾脏的产前诊断及组织学特征
Congenit Anom (Kyoto). 2014 Nov;54(4):233-9. doi: 10.1111/cga.12066.
8
Short rib-polydactyly syndrome.短肋多指综合征
Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17.
9
Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.在常规产前超声筛查期间诊断出的III型短肋多指综合征(SRPS)。病例报告。
Prenat Diagn. 1995 Jul;15(7):665-8. doi: 10.1002/pd.1970150713.
10
A case of short-rib syndrome without polydactyly in a stillborn: a new type?一例死产儿的无多指畸形的短肋综合征:一种新型?
Birth Defects Orig Artic Ser. 1996;30(1):95-101.