• 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

股骨发育不全伴特殊面容综合征

Femoral Hypoplasia with Unusual Facies Syndrome.

作者信息

Shenoy Sreekanth R, Mondal Dipankar, Upadhyay Manas Ranjan, Gupta Bhupendra Kumar, Mahar Jatadhari

机构信息

Junior Resident, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.

Assistant Professor, Department of Paediatrics, SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha, India.

出版信息

J Clin Diagn Res. 2017 Aug;11(8):SD03-SD04. doi: 10.7860/JCDR/2017/27632.10481. Epub 2017 Aug 1.

DOI:10.7860/JCDR/2017/27632.10481
PMID:28969231
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5620872/
Abstract

Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far. We present the case of one-day-old, male child, born to a primi gravida with oligohydramnios and severe growth restriction. The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis.

摘要

股骨面部综合征是一种罕见的临床病症，其特征为单侧或双侧股骨发育不全以及面部的各种畸形。迄今为止，通过产前超声检查仅发现少数病例。我们报告一例1日龄男婴病例，其母亲为初产妇，羊水过少且严重生长受限。该患儿面部异常，伴有腭裂、非交通性脑积水，左股骨完全缺如，右股骨发育不全，双侧马蹄内翻足以及双侧隐睾。

相似文献

1
Femoral Hypoplasia with Unusual Facies Syndrome.股骨发育不全伴特殊面容综合征
J Clin Diagn Res. 2017 Aug;11(8):SD03-SD04. doi: 10.7860/JCDR/2017/27632.10481. Epub 2017 Aug 1.
2
Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus.胎儿股骨发育不全-特殊面容综合征的诊断
Ultrasound Obstet Gynecol. 2007 Sep;30(3):354-8. doi: 10.1002/uog.4080.
3
[Femoral hypoplasia--unusual facies syndrome].[股骨发育不全-特殊面容综合征]
Ann Pediatr (Paris). 1989 Dec;36(10):693-6.
4
[Femoral hypoplasia-unusual facies syndrome: A case report].[股骨发育不全-特殊面容综合征：一例报告]
Rev Chil Pediatr. 2016 Jan-Feb;87(1):59-62. doi: 10.1016/j.rchipe.2015.08.005. Epub 2015 Oct 9.
5
Additional malformations in femoral hypoplasia: unusual facies syndrome.股骨发育不全合并其他畸形：特殊面容综合征。
Indian J Pediatr. 2002 Jun;69(6):531-2. doi: 10.1007/BF02722660.
6
Prenatal diagnosis of femoral-facial syndrome: case report.股骨面综合征的产前诊断：病例报告
J Clin Ultrasound. 2014 Jan;42(1):49-52. doi: 10.1002/jcu.22034. Epub 2013 Jan 17.
7
The femoral hypoplasia-unusual facies syndrome.股骨发育不全-特殊面容综合征
J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.
8
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.股面综合征：文献综述及另外14例患者，包括一对单卵双胎不一致的双胞胎。
Am J Med Genet A. 2018 Sep;176(9):1917-1928. doi: 10.1002/ajmg.a.40425. Epub 2018 Aug 2.
9
Prenatal diagnosis and tridimensional ultrasound features of bilateral femoral hypoplasia--unusual facies syndrome.双侧股骨发育不全-特殊面容综合征的产前诊断及三维超声特征
J Matern Fetal Neonatal Med. 2009 Oct;22(10):936-9. doi: 10.1080/14767050902994606.
10
A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".一种具有包括“磨牙”征和“股骨发育不全”等特征的暂未明确的独特综合征。
Genet Couns. 2009;20(4):359-65.

引用本文的文献

1
Special considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.唇腭裂手术国际体重标准的特殊考量：股骨面综合征患者的术前优化
BMJ Case Rep. 2025 Jun 24;18(6):e265447. doi: 10.1136/bcr-2025-265447.
2
Femoral-facial syndrome in a Black Bantu African preterm infant: a case report.一名非洲班图族黑人早产女婴的股面综合征：病例报告
J Med Case Rep. 2025 Mar 26;19(1):139. doi: 10.1186/s13256-025-05181-7.
3
Anesthetic considerations in an infant with femoral hypoplasia-unusual facies syndrome and Pierre Robin sequence: A case report.患有股骨发育不全-特殊面容综合征和皮埃尔·罗宾序列征婴儿的麻醉注意事项：一例报告
Clin Case Rep. 2023 Jul 4;11(7):e7646. doi: 10.1002/ccr3.7646. eCollection 2023 Jul.
4
First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation.成人首例股面综合征报告：食管腺癌作为一种进行性胃肠道表现
Cureus. 2022 Apr 19;14(4):e24285. doi: 10.7759/cureus.24285. eCollection 2022 Apr.

本文引用的文献

1
A case of femoral-facial syndrome in a patient with autism spectrum disorders.一名患有自闭症谱系障碍的患者出现股面综合征的病例。
Minerva Pediatr. 2011 Aug;63(4):341-4.
2
Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus.胎儿股骨发育不全-特殊面容综合征的诊断
Ultrasound Obstet Gynecol. 2007 Sep;30(3):354-8. doi: 10.1002/uog.4080.
3
Additional malformations in femoral hypoplasia: unusual facies syndrome.股骨发育不全合并其他畸形：特殊面容综合征。
Indian J Pediatr. 2002 Jun;69(6):531-2. doi: 10.1007/BF02722660.
4
Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.股骨发育不全-特殊面容综合征：产前超声观察
Fetal Diagn Ther. 1993 Jul-Aug;8(4):279-84. doi: 10.1159/000263840.
5
Dominant inheritance of femoral hypoplasia-unusual facies syndrome.股骨发育不全-特殊面容综合征的显性遗传
Clin Genet. 1980 Apr;17(4):255-8. doi: 10.1111/j.1399-0004.1980.tb00144.x.
6
Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.糖尿病母亲婴儿的股骨发育不全-特殊面容综合征
J Pediatr. 1983 Jun;102(6):866-72. doi: 10.1016/s0022-3476(83)80013-4.
7
The femoral hypoplasia-unusual facies syndrome.股骨发育不全-特殊面容综合征
J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.
8
Femoral hypoplasia--unusual facies syndrome.股骨发育不全-特殊面容综合征
J Pediatr. 1975 Jan;86(1):107-11. doi: 10.1016/s0022-3476(75)80718-9.