Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition

José Martinho, Hugo Ferreira, Siri Paulo, Anabela Paula, Carlos-Miguel Marto, Eunice Carrilho and Manuel Marques-Ferreira
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José Martinho: 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
Hugo Ferreira: 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
Siri Paulo: 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
Anabela Paula: 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
Carlos-Miguel Marto: 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
Eunice Carrilho: 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
Manuel Marques-Ferreira: 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

IJERPH, 2019, vol. 16, issue 6, 1-8

Abstract: (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.

Keywords: BCOR; dental anomalies; oculo-facio-cardio-dental syndrome; orthodontic treatment; orthognathic surgery; radiculomegaly (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2019
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