Bartzela Theodosia N, Carels Carine, Maltha Jaap C
Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité-Universitätsmedizin, Berlin, Germany.
Department of Orthodontics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Front Physiol. 2017 Dec 14;8:1038. doi: 10.3389/fphys.2017.01038. eCollection 2017.
Care of individuals with syndromes affecting craniofacial and dental structures are mostly treated by an interdisciplinary team from early childhood on. In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background-like molecular and developmental geneticists, but also computational biologists and bioinformaticians-, become more frequently involved in the refined diagnostic and etiological processes of these patients. Early diagnosis is often crucial for the effective treatment of functional and developmental aspects. However, not all syndromes can be clinically identified early, especially in cases of absence of known family history. Moreover, the treatment of these patients is often complicated because of insufficient medical knowledge, and because of the dental and craniofacial developmental variations. The role of the team is crucial for the prevention, proper function, and craniofacial development which is often combined with orthognathic surgery. Although the existing literature does not provide considerable insight into this topic, this descriptive review aims to provide tools for the interdisciplinary team by giving an update on the genetics and general features, and the oral and craniofacial manifestations for early diagnosis. Clinical phenotyping together with genetic data and pathway information will ultimately pave the way for preventive strategies and therapeutic options in the future. This will improve the prognosis for better functional and aesthetic outcome for these patients and lead to a better quality of life, not only for the patients themselves but also for their families. The aim of this review is to promote interdisciplinary interaction and mutual understanding among all specialists involved in the diagnosis and therapeutic guidance of patients with these syndromal conditions in order to provide optimal personalized care in an integrated approach.
从幼儿期开始，患有影响颅面和牙齿结构综合征的个体护理大多由跨学科团队进行。除了对这些综合征有着浓厚兴趣且这些综合征显然对其很重要的医学和牙科专家外，具有科学背景的专家，如分子和发育遗传学家，还有计算生物学家和生物信息学家，也越来越频繁地参与到这些患者精细的诊断和病因学研究过程中。早期诊断对于有效治疗功能和发育方面往往至关重要。然而，并非所有综合征都能在临床上早期识别，尤其是在没有已知家族病史的情况下。此外，由于医学知识不足以及牙齿和颅面发育变异，这些患者的治疗往往很复杂。该团队对于预防、正常功能以及通常与正颌外科手术相结合的颅面发育起着至关重要的作用。尽管现有文献对此主题的见解并不深入，但本描述性综述旨在通过更新遗传学和一般特征以及早期诊断的口腔和颅面表现，为跨学科团队提供工具。临床表型分析以及遗传数据和通路信息最终将为未来的预防策略和治疗选择铺平道路。这将改善这些患者获得更好功能和美学结果的预后，并不仅为患者自身而且为其家庭带来更高的生活质量。本综述的目的是促进参与这些综合征患者诊断和治疗指导的所有专家之间的跨学科互动和相互理解，以便以综合方法提供最佳的个性化护理。
