Dental and Craniofacial Anomalies in Fanconi Anemia: A Systematic Review and Additional 46 Reports.

IF 2.9 3区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Oral diseases Pub Date : 2024-11-20 DOI:10.1111/odi.15205

Paula Alves da Silva Rocha, Nayara Conceição Marcos Santana, José Alcides Almeida de Arruda, Tania Mara Pimenta Amaral, Victor Zanetti Drumond, Cassius Carvalho Torres-Pereira, Ana Carolina Acevedo, Ariane Berdal, Lucas Guimarães Abreu, Tarcília Aparecida Silva, Benjamin P J Fournier

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引用次数: 0

Abstract

Objective: Fanconi anemia (FA), a rare genetic disorder, has not been comprehensively studied regarding its dental and craniofacial phenotypes. This study aimed to systematically review the available evidence on dental, occlusion, and craniofacial anomalies in individuals with FA and to describe the occurrence of these anomalies in a cohort from two Brazilian referral centers.

Materials and methods: Electronic searches were conducted across six databases, supplemented by manual searches and gray literature. The Brazilian cohort included 46 patients diagnosed with FA.

Results: A total of 19 articles describing 158 cases of FA were analyzed. The estimated prevalence of dental/craniofacial anomalies ranged from 13.3% to 71.4%. In our cohort, 93.5% of patients exhibited anomalies, primarily root abnormalities (69.6%), tooth rotation (54.3%), and tooth agenesis (26%). Males (p = 0.031) and individuals with endocrine disorders (p = 0.047) were more likely to experience alterations in eruption and/or exfoliation. Anomalies in size and shape were significantly more prevalent among individuals who had undergone hematopoietic stem-cell transplantation at age 14 or older (p = 0.002).

Conclusion: The high occurrence of dental/craniofacial anomalies in individuals with FA suggests that these anomalies are part of the disease's phenotypic spectrum, emphasizing the need to expand and standardize the diagnostic criteria of the disease.

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范可尼贫血症的牙齿和颅面畸形：系统综述和其他 46 篇报告

目的：范可尼贫血症（Fanconi anemia，FA）是一种罕见的遗传性疾病，目前尚未对其牙齿和颅面表型进行全面研究。本研究旨在系统回顾有关FA患者牙齿、咬合和颅面畸形的现有证据，并描述这些畸形在巴西两家转诊中心的队列中的发生情况：对六个数据库进行了电子检索，并辅以人工检索和灰色文献。巴西队列包括46名确诊为FA的患者：结果：共分析了19篇描述158例FA的文章。牙齿/颅面畸形的估计发病率从13.3%到71.4%不等。在我们的队列中，93.5%的患者表现出异常，主要是牙根异常（69.6%）、牙齿旋转（54.3%）和牙齿缺失（26%）。男性（p = 0.031）和内分泌失调者（p = 0.047）更容易出现萌出和/或脱落的改变。在14岁或14岁以上接受过造血干细胞移植的人中，尺寸和形状异常的发生率明显更高（p = 0.002）：结论：FA患者牙科/颅面畸形的高发生率表明，这些畸形是该疾病表型谱的一部分，强调了扩大和规范该疾病诊断标准的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oral diseases 医学-牙科与口腔外科

CiteScore

7.60

自引率

5.30%

发文量

325

审稿时长

4-8 weeks

期刊介绍： Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.