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

(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...

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Autores principales: Martinho, José, Ferreira, Hugo, Paulo, Siri, Paula, Anabela, Marto, Carlos-Miguel, Carrilho, Eunice, Marques-Ferreira, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466113/
https://www.ncbi.nlm.nih.gov/pubmed/30875852
http://dx.doi.org/10.3390/ijerph16060928
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author Martinho, José
Ferreira, Hugo
Paulo, Siri
Paula, Anabela
Marto, Carlos-Miguel
Carrilho, Eunice
Marques-Ferreira, Manuel
author_facet Martinho, José
Ferreira, Hugo
Paulo, Siri
Paula, Anabela
Marto, Carlos-Miguel
Carrilho, Eunice
Marques-Ferreira, Manuel
author_sort Martinho, José
collection PubMed
description (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.
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spelling pubmed-64661132019-04-22 Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition Martinho, José Ferreira, Hugo Paulo, Siri Paula, Anabela Marto, Carlos-Miguel Carrilho, Eunice Marques-Ferreira, Manuel Int J Environ Res Public Health Case Report (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. MDPI 2019-03-14 2019-03 /pmc/articles/PMC6466113/ /pubmed/30875852 http://dx.doi.org/10.3390/ijerph16060928 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Martinho, José
Ferreira, Hugo
Paulo, Siri
Paula, Anabela
Marto, Carlos-Miguel
Carrilho, Eunice
Marques-Ferreira, Manuel
Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title_full Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title_fullStr Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title_full_unstemmed Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title_short Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
title_sort oculo-facio-cardio-dental syndrome: a case report about a rare pathological condition
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466113/
https://www.ncbi.nlm.nih.gov/pubmed/30875852
http://dx.doi.org/10.3390/ijerph16060928
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