Institute of Endodontics, Institute of Integrated Clinical Practice, Institute of Experimental Pathology,Institute for Clinical and Biomedical Research (iCBR), Area of Environment Genetics and Oncobiology(CIMAGO), CNC.IBILI, Faculty of Medicine, University of Coimbra, Avenida Bissaya Barreto,3000-075 Coimbra, Portugal.
Int J Environ Res Public Health. 2019 Mar 14;16(6):928. doi: 10.3390/ijerph16060928.
(1) Background: Oculo-facio-cardio-dental (OFCD) syndrome is a rare pathological condition with an X-linked dominant trait that only occurs in females; no males are born with OFCD syndrome. This syndrome is characterized by congenital cataracts with secondary glaucoma ocular defects, ventricular and atrial septal defects, or mitral valve prolapses. Facial traits are a long narrow face and a high nasal bridge with a bifid nasal tip. Dental anomalies include radiculomegaly, oligodontia, root dilacerations, malocclusion, and delayed eruption. (2) Methods: This clinical report describes a 26-year-old girl who suffers from OFCD syndrome and who was treated with a multidisciplinary approach. The treatment plan included orthodontic treatment, orthognathic surgery, namely LeFort I and a Bilateral Sagittal Split Osteotomy, and occlusal rehabilitation with implants. (3) Discussion: Early diagnosis and multidisciplinary treatment of orthodontic, orthognathic surgery and occlusal rehabilitation with implants make it possible to maintain tooth function and improve aesthetics with good prognoses for success. In this paper, we report a case of a female patient with OFCD syndrome, who was referred for orthodontic treatment and occlusal rehabilitation and treated with a multidisciplinary approach.
(1) 背景：眼面心牙（OFCD）综合征是一种罕见的疾病，具有 X 连锁显性遗传特征，仅发生于女性；男性中不会出现 OFCD 综合征。这种综合征的特征是先天性白内障伴继发性青光眼眼部缺陷、心室和心房间隔缺损或二尖瓣脱垂。面部特征是长而窄的脸和高鼻梁，伴有分叉的鼻尖。牙齿异常包括根肥大、缺牙、牙根扭曲、咬合不正和出牙延迟。(2) 方法：本临床报告描述了一位 26 岁的女性患者，患有 OFCD 综合征，采用多学科方法进行治疗。治疗计划包括正畸治疗、正颌手术，即 LeFort I 和双侧矢状劈开截骨术，以及用种植体进行咬合重建。(3) 讨论：早期诊断和多学科治疗的正畸、正颌手术和用种植体进行咬合重建可以维持牙齿功能，改善美观，具有良好的成功预后。本文报告了一例女性 OFCD 综合征患者，该患者因正畸和咬合重建而被转诊，并采用多学科方法进行治疗。
