• 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 campomelic dysplasia.

作者信息

Tongsong T, Wanapirak C, Pongsatha S

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.

出版信息

Ultrasound Obstet Gynecol. 2000 May;15(5):428-30. doi: 10.1046/j.1469-0705.2000.00126.x.

DOI:10.1046/j.1469-0705.2000.00126.x
PMID:10976487
Abstract

A pregnant woman of 24 weeks' gestation underwent ultrasound examination for fetal anomaly screening. The ultrasound findings revealed a single fetus with biparietal diameter of 61 mm, which was consistent with menstrual dates. The thoracic cage was small compared to the abdomen with hypoplastic scapulae and normally ossified unfractured ribs. All bony structures demonstrated normal echogenicity. The upper long bones were normal length and shape. Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clearly demonstrated. A prenatal diagnosis of campomelic dysplasia was made and was confirmed by postnatal radiography and autopsy. The sonographic diagnosis in this case was based on the findings of small thorax, hypoplastic scapulae and bowed tibiae and femurs.

摘要

相似文献

1
Prenatal diagnosis of campomelic dysplasia.
Ultrasound Obstet Gynecol. 2000 May;15(5):428-30. doi: 10.1046/j.1469-0705.2000.00126.x.
2
Camptomelic dysplasia: prenatal diagnosis by ultrasound.弯曲肢体发育异常:超声产前诊断
Skeletal Radiol. 2006 Sep;35(9):699-701. doi: 10.1007/s00256-005-0922-y. Epub 2005 Sep 20.
3
A case of acampomelic campomelic dysplasia.一例无股骨弯曲的弯肢性发育不良病例。
Genet Couns. 2002;13(1):23-8.
4
High resolution real time ultrasonography in antenatal diagnosis of skeletal anomalies.
Bull Hosp Jt Dis. 1996;54(4):226-9.
5
Prenatal diagnosis of dyssegmental dysplasia. A case report.节段性发育异常的产前诊断。病例报告。
J Reprod Med. 1999 Mar;44(3):303-5.
6
[Prenatal diagnosis of skeletal dysplasia: case report of a fetus with multiple anomalies].[骨骼发育不良的产前诊断:一例多发畸形胎儿的病例报告]
Med Pregl. 2000 Mar-Apr;53(3-4):197-201.
7
Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism.合并窄胸和短肢侏儒症的多囊胰腺的早期产前诊断。
Am J Med Genet. 1994 Jan 1;49(1):6-9. doi: 10.1002/ajmg.1320490103.
8
Prenatal diagnosis of osteogenesis imperfecta congenita by ultrasonography.超声检查对先天性成骨不全的产前诊断
J Formos Med Assoc. 1996 May;95(5):386-9.
9
[Clinical study and prenatal diagnosis of fetus with shortened long bones].[长骨短小胎儿的临床研究与产前诊断]
Zhonghua Yi Xue Za Zhi. 2007 Dec 4;87(45):3178-82.
10
Prenatal sonographic diagnosis of Neu-Laxova syndrome.
J Clin Ultrasound. 2001 Nov-Dec;29(9):531-4. doi: 10.1002/jcu.10019.

引用本文的文献

1
Case report: A Non-sense mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia.病例报告:位于反式激活结构域的一个无义突变(p.Q417*)导致了弯肢侏儒症。
Front Pediatr. 2023 Jan 18;10:1089194. doi: 10.3389/fped.2022.1089194. eCollection 2022.
2
Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with deletion.病例报告:孕早期由单倍剂量不足伴缺失导致的囊状水瘤合并弯肢发育异常。
Front Genet. 2022 Aug 29;13:950271. doi: 10.3389/fgene.2022.950271. eCollection 2022.