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

• Published in: International journal of environmental research and public health Vol. 16; no. 6; p. 928
• Main Authors: Martinho, José, Ferreira, Hugo, Paulo, Siri, Paula, Anabela, Marto, Carlos-Miguel, Carrilho, Eunice, Marques-Ferreira, Manuel
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 14-03-2019; MDPI
• Subjects: Adult; Anomalies; Bcl-6 protein; Bone diseases; Case Report; Case reports; Cataract - congenital; Cataract - therapy; Cataracts; Cutting tools; Female; Genetic analysis; Heart Septal Defects - surgery; Heart Septal Defects - therapy; Humans; Males; Malocclusion - surgery; Malocclusion - therapy; Marfan syndrome; Microphthalmos - surgery; Microphthalmos - therapy; Mutation; Orthodontics; Orthognathic Surgical Procedures; Rehabilitation; Soft tissues; Surgeons; Surgery; Teeth; Transplants & implants; Trauma; orthodontic treatment; orthognathic surgery; oculo-facio-cardio-dental syndrome; radiculomegaly; BCOR; dental anomalies
• ISSN: 1660-4601; 1661-7827; 1660-4601
• 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.