Cureus · 2025
Multidisciplinary Approach for the Management of Dubowitz Syndrome for Optimal Functional and Behavioral Outcomes: A Case Report and Brief Review of the Literature.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Fukumoto Inukai Kenzo Alejandro, Ríos Muñoz Braulio, Morales Morales Carlos A, Mendoza Andrade Lidia, Hernández Cárdenas Cindy A, Sánchez Méndez Leticia, Martínez Wagner Rogelio
Аннотация
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.