• 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

1例围产期诊断的麦库西克-考夫曼综合征病例报告及文献复习

A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

作者信息

Ullah Irfan, Rauf Shahzad, Ali Sajjad, Khan Kiran Shafiq, Zahid Tayyaba, Malik Jahanzeb, Afridi Rifayat Ullah, Asghar Muhammad Sohaib

机构信息

Department of Pediatrics, Kabir Medical College, Gandhara University, Peshawar, Pakistan.

Department of Pediatrics, Khyber Teaching Hospital, Peshawar, Pakistan.

出版信息

Ann Med Surg (Lond). 2022 Jun 6;79:103926. doi: 10.1016/j.amsu.2022.103926. eCollection 2022 Jul.

DOI:10.1016/j.amsu.2022.103926
PMID:35860126
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9289321/
Abstract

INTRODUCTION

and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations.

CASE PRESENTATION

We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC.

CLINICAL DISCUSSION

Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS.

CONCLUSION

Both of the disease syndromes are diagnosed clinically after birth.Keywords: McKusick Syndrome, Bardet-beidel syndrome, hydrometrocolpos, case report.

摘要

引言

及重要性：麦库西克-考夫曼综合征（MKS）是一种罕见的常染色体隐性综合征，其特征为阴道积血积水（HMC）、多指畸形以及各种胃肠道和肾脏表现。

病例报告

我们报告一例产前超声检查发现脑侧脑室扩张和HMC的疑似MKS病例。

临床讨论

主要鉴别诊断包括巴德-比德尔综合征（BBS），该综合征可出现HMC和多指畸形，但视网膜表现是与MKS的鉴别特征。

结论

这两种疾病综合征均在出生后通过临床诊断。关键词：麦库西克综合征、巴德-比德尔综合征、阴道积血积水、病例报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/d98f3bb7a6dc/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/1efece010ba0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/6cee50e94ea2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/d98f3bb7a6dc/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/1efece010ba0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/6cee50e94ea2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a99/9289321/d98f3bb7a6dc/gr3.jpg

相似文献

1
A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.1例围产期诊断的麦库西克-考夫曼综合征病例报告及文献复习
Ann Med Surg (Lond). 2022 Jun 6;79:103926. doi: 10.1016/j.amsu.2022.103926. eCollection 2022 Jul.
2
McKusick-Kaufman Syndrome麦库西克-考夫曼综合征
3
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome.
Taiwan J Obstet Gynecol. 2014 Jun;53(2):241-4. doi: 10.1016/j.tjog.2012.07.042.
4
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.麦库西克-考夫曼综合征还是巴德-比德尔综合征？意大利一个非近亲健康家庭中的一例新临界病例。
Indian J Hum Genet. 2011 May;17(2):94-6. doi: 10.4103/0971-6866.86194.
5
A case of McKusick-Kaufman syndrome.一例麦库西克-考夫曼综合征病例。
Korean J Pediatr. 2011 May;54(5):219-23. doi: 10.3345/kjp.2011.54.5.219. Epub 2011 May 31.
6
A case of hydrometrocolpos and polydactyly.一例阴道积血和多指畸形病例。
Clin Med Insights Pediatr. 2015 Jan 14;9:7-11. doi: 10.4137/CMPed.S20787. eCollection 2015.
7
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
Am J Med Genet A. 2004 Aug 15;129A(1):69-72. doi: 10.1002/ajmg.a.30071.
8
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.麦库西克-考夫曼综合征与巴德-比德尔综合征的表型重叠：文献综述
Am J Med Genet. 2000 Nov 27;95(3):208-15.
9
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.最初表现为麦库西克-考夫曼综合征的巴德-比埃尔综合征。
J Formos Med Assoc. 2004 Aug;103(8):629-32.
10
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.阴道积水并多指（趾）畸形：巴德-比德尔综合征和麦库西克-考夫曼综合征常见的新生儿表现。
J Med Genet. 1999 Aug;36(8):599-603.

引用本文的文献

1
Hydrometrocolpos: a Contemporary Review of the Last 5 Years.积水性子宫阴道：近 5 年的当代回顾。
Curr Urol Rep. 2023 Dec;24(12):601-610. doi: 10.1007/s11934-023-01191-4. Epub 2023 Dec 1.
2
McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling.麦库西克-考夫曼综合征：一例报告，重点关注围产期诊断和遗传咨询
Cureus. 2023 Apr 19;15(4):e37808. doi: 10.7759/cureus.37808. eCollection 2023 Apr.

本文引用的文献

1
The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines.SCARE 2020 指南：更新共识手术病例报告（SCARE）指南。
Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. Epub 2020 Nov 9.
2
Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.胎儿积水性尿道阴道积水伴前轴镜像多指畸形：一种新的 McKusick-Kaufman 综合征变异型。
J Clin Ultrasound. 2021 Jan;49(1):62-65. doi: 10.1002/jcu.22882. Epub 2020 Jun 14.
3
A Newborn with Rare McKusick Syndrome.
一名患有罕见麦库西克综合征的新生儿。
J Coll Physicians Surg Pak. 2018 Jun;28(6):S140-S142. doi: 10.29271/jcpsp.2018.06.S140.
4
Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.
Urology. 2017 May;103:224-226. doi: 10.1016/j.urology.2017.01.024. Epub 2017 Jan 30.
5
Radiological Diagnosis of Neonatal Hydrometrocolpos- A Case Report.新生儿阴道积血积脓的放射学诊断——病例报告
J Clin Diagn Res. 2016 Mar;10(3):TD18-9. doi: 10.7860/JCDR/2016/18537.7510. Epub 2016 Mar 1.
6
Mckusick-kaufman syndrome presenting as acute intestinal obstruction.表现为急性肠梗阻的麦库西克-考夫曼综合征
J Neonatal Surg. 2013 Jan 1;2(1):7. eCollection 2013 Jan-Mar.
7
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome.
Taiwan J Obstet Gynecol. 2014 Jun;53(2):241-4. doi: 10.1016/j.tjog.2012.07.042.
8
McKusik Kaufman syndrome.
J Ayub Med Coll Abbottabad. 2012 Apr-Jun;24(2):154-5.
9
The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report.麦库西克-考夫曼阴道积水-多指综合征：一例罕见病例报告。
Indian J Radiol Imaging. 2013 Apr;23(2):183-5. doi: 10.4103/0971-3026.116573.