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.
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.
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。