• 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

多学科方法管理杜波维茨综合征以实现最佳功能和行为结果:一例报告及文献简要综述

Multidisciplinary Approach for the Management of Dubowitz Syndrome for Optimal Functional and Behavioral Outcomes: A Case Report and Brief Review of the Literature.

作者信息

Fukumoto Inukai Kenzo Alejandro, Ríos Muñoz Braulio, Morales Morales Carlos A, Mendoza Andrade Lidia, Hernández Cárdenas Cindy A, Sánchez Méndez Leticia, Martínez Wagner Rogelio

机构信息

Department of Plastic and Reconstructive Surgery, Palate/Lip Cleft Clinic, Hospital General Dr. Manuel Gea González, Mexico City, MEX.

出版信息

Cureus. 2025 Jan 2;17(1):e76804. doi: 10.7759/cureus.76804. eCollection 2025 Jan.

DOI:10.7759/cureus.76804
PMID:39897299
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11786807/
Abstract

Dubowitz syndrome (DubS) is a rare condition characterized by a range of medical challenges, including distinctive facial features and complications affecting the ocular, dental, dermatological, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological systems. This syndrome results from multiple gene mutations and is inherited in an autosomal recessive manner. The purpose of this article is to detail the multidisciplinary approach required to address the various clinical and social aspects of the syndrome. We present the case of a male Mexican patient diagnosed with DubS based on clinical features, particularly the characteristic facial appearance, despite inconclusive genetic testing. He displayed an average intellectual level but experienced behavioral issues, alongside ocular, dental, cutaneous, musculoskeletal, gastrointestinal, and hematological alterations. The patient received comprehensive care from a multidisciplinary team, including specialists in plastic and reconstructive surgery, pediatrics, psychology, genetics, nutrition, orthodontics, ophthalmology, stomatology, and phoniatrics. This collaborative approach resulted in positive functional and behavioral outcomes. Additionally, we conducted a review of the literature, noting that there are currently no established treatment guidelines. A thorough multidisciplinary strategy for patients with DubS can lead to improved esthetic and functional results, as well as enhanced social skills and self-esteem.

摘要

杜波维茨综合征(DubS)是一种罕见疾病,其特征是存在一系列医学难题,包括独特的面部特征以及影响眼、牙、皮肤、骨骼、心血管、胃肠道、神经、免疫和血液系统的并发症。该综合征由多个基因突变引起,以常染色体隐性方式遗传。本文旨在详述应对该综合征各种临床和社会问题所需的多学科方法。我们介绍了一名墨西哥男性患者的病例,尽管基因检测结果不明确,但根据临床特征,尤其是典型的面部外观,诊断为杜波维茨综合征。他智力水平一般,但存在行为问题,同时伴有眼、牙、皮肤、肌肉骨骼、胃肠道和血液方面的改变。该患者接受了一个多学科团队的全面护理,团队成员包括整形与重建外科、儿科、心理学、遗传学、营养、正畸、眼科、口腔医学和言语治疗方面的专家。这种协作方法产生了积极的功能和行为结果。此外,我们对文献进行了综述,注意到目前尚无既定的治疗指南。针对杜波维茨综合征患者采取全面的多学科策略可带来改善的美学和功能效果,以及增强的社交技能和自尊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4150/11786807/ba0bff0e687e/cureus-0017-00000076804-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4150/11786807/cceea44fcdc7/cureus-0017-00000076804-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4150/11786807/ba0bff0e687e/cureus-0017-00000076804-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4150/11786807/cceea44fcdc7/cureus-0017-00000076804-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4150/11786807/ba0bff0e687e/cureus-0017-00000076804-i02.jpg

相似文献

1
Multidisciplinary Approach for the Management of Dubowitz Syndrome for Optimal Functional and Behavioral Outcomes: A Case Report and Brief Review of the Literature.多学科方法管理杜波维茨综合征以实现最佳功能和行为结果:一例报告及文献简要综述
Cureus. 2025 Jan 2;17(1):e76804. doi: 10.7759/cureus.76804. eCollection 2025 Jan.
2
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.杜波维茨综合征:综述及其对认知、行为和心理特征的影响
J Clin Med Res. 2011 Jul 26;3(4):147-55. doi: 10.4021/jocmr581w.
3
Pyoderma Gangrenosum: A Challenging Cutaneous Manifestation in Dubowitz Syndrome.坏疽性脓皮病:杜波维茨综合征中一种具有挑战性的皮肤表现。
Cureus. 2023 Aug 13;15(8):e43408. doi: 10.7759/cureus.43408. eCollection 2023 Aug.
4
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.一名患有杜波维茨综合征患者的牙齿和颅面特征:病例报告
J Med Case Rep. 2011 Jan 27;5:38. doi: 10.1186/1752-1947-5-38.
5
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.杜波维茨综合征:141例病例回顾,包括36例此前未报告的患者。
Am J Med Genet. 1996 May 3;63(1):277-89. doi: 10.1002/(SICI)1096-8628(19960503)63:1<277::AID-AJMG46>3.0.CO;2-I.
6
Anesthesia of a patient with Dubowitz syndrome -A case report-.杜博维茨综合征患者的麻醉——病例报告
Korean J Anesthesiol. 2010 May;58(5):495-9. doi: 10.4097/kjae.2010.58.5.495. Epub 2010 May 31.
7
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome.一名患有杜波维茨综合征的儿科患者的口颅面部检查结果及牙科处理
J Clin Pediatr Dent. 2012 Winter;37(2):203-6. doi: 10.17796/jcpd.37.2.y5w316j142314073.
8
Multidisciplinary management of Opitz G BBB syndrome.奥皮茨G BBB综合征的多学科管理。
Ann Plast Surg. 2005 Oct;55(4):402-7. doi: 10.1097/01.sap.0000174355.56130.0a.
9
Cleft and Craniofacial Care During Military Pediatric Plastic Surgery Humanitarian Missions.军事儿科整形手术人道主义任务中的唇腭裂及颅面护理
J Craniofac Surg. 2015 Jun;26(4):1097-101. doi: 10.1097/SCS.0000000000001686.
10
Progressive scoliosis in Dubowitz syndrome.杜波维茨综合征中的进行性脊柱侧弯。
Spine (Phila Pa 1976). 1995 Nov 1;20(21):2335-7. doi: 10.1097/00007632-199511000-00012.

本文引用的文献

1
Pyoderma Gangrenosum: A Challenging Cutaneous Manifestation in Dubowitz Syndrome.坏疽性脓皮病:杜波维茨综合征中一种具有挑战性的皮肤表现。
Cureus. 2023 Aug 13;15(8):e43408. doi: 10.7759/cureus.43408. eCollection 2023 Aug.
2
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.具有杜博维茨综合征临床诊断的个体的替代基因组诊断。
Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24.
3
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
杜博维茨综合征的临床和遗传异质性:对诊断、管理和进一步研究的影响。
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661.
4
Cleft Lip and Palate.唇腭裂
Clin Perinatol. 2018 Dec;45(4):661-678. doi: 10.1016/j.clp.2018.07.006. Epub 2018 Sep 18.
5
Dubowitz syndrome and the increased risk of developing malignancies.杜波维茨综合征与发生恶性肿瘤的风险增加
Pediatr Allergy Immunol. 2015 Dec;26(8):820-1. doi: 10.1111/pai.12411. Epub 2015 Jul 21.
6
Profound T-cell defects in Dubowitz syndrome.杜波维茨综合征中严重的T细胞缺陷。
Pediatr Allergy Immunol. 2014 Aug;25(5):511-3. doi: 10.1111/pai.12238. Epub 2014 Jun 5.
7
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.杜氏综合征是一种复杂的疾病,由多种具有不同遗传基础和表型重叠的疾病组成。
PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.
8
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome.一名患有杜波维茨综合征的儿科患者的口颅面部检查结果及牙科处理
J Clin Pediatr Dent. 2012 Winter;37(2):203-6. doi: 10.17796/jcpd.37.2.y5w316j142314073.
9
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.杜波维茨综合征:综述及其对认知、行为和心理特征的影响
J Clin Med Res. 2011 Jul 26;3(4):147-55. doi: 10.4021/jocmr581w.
10
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report.一名患有杜波维茨综合征患者的食管癌与IgA缺乏症:病例报告
Tokai J Exp Clin Med. 2011 Jul 20;36(2):29-30.