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Apert综合征的治疗时机与多学科治疗方法

Treatment timing and multidisciplinary approach in Apert syndrome.

作者信息

Fadda Maria Teresa, Ierardo Gaetano, Ladniak Barbara, Di Giorgio Gianni, Caporlingua Alessandro, Raponi Ingrid, Silvestri Alessandro

机构信息

Department of Oral and Maxillofacial Sciences, Maxillofacial Surgery Unit, Policlinico Umberto I, "Sapienza" University of Rome, Italy.

Department of Oral and Maxillofacial Sciences, Pediatric Unit, "Sapienza" University of Rome, Italy.

出版信息

Ann Stomatol (Roma). 2015 Jul 28;6(2):58-63. eCollection 2015 Apr-Jun.

Abstract

Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients' age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members.

摘要

阿佩尔综合征是一种罕见的先天性疾病,其特征为颅缝早闭、面中部发育不全以及手足对称性并指(趾)畸形。与阿佩尔综合征相关的异常包括冠状缝系统(冠状缝,较少见的是人字缝)过早融合,导致短头畸形和颅底生长受损。经过这一简要解释,很明显这些解剖学异常可能会对执行基本功能的能力产生负面影响。由于该综合征的复杂性,在治疗心理、美学和功能问题时需要多学科(呼吸、脑科、上颌下颌、牙科、眼科和骨科)方法。本文的目的是分析不同的功能问题和手术方法,试图通过一个包括参与阿佩尔综合征治疗的不同专业的治疗计划来提高治疗效果。智力发育迟缓与小患者接受大量全身麻醉有关。因此,这些患者的诊断和治疗计划基于患者年龄制定了综合且量身定制的手术程序,以减少全身麻醉的次数,从而简化对阿佩尔综合征患者及其家庭成员的治疗。

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