Oculo-facio-cardio-dental (OFCD) syndrome: a case report

• Published in: Journal of medical case reports Vol. 18; no. 1; p. 18
• Main Authors: Nguyen, Tung Thanh, Truong, Anh Thai Hoang, Hoang, Vu Anh, Van Huynh, Duong, Van Nguyen, Tuan, Le, Chanh Trung, Dang, Dung Thi Phuong, Le, Minh Huu Nhat
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 04.01.2024; BioMed Central; BMC
• Subjects: Abnormalities; BCOR gene; Cardiovascular disease; Case Report; Case reports; Case studies; Cataracts; Congenital diseases; Craniofacial abnormalities; Deformities; Dental anomalies; Dentists; Ears & hearing; Endodontics; Eyes & eyesight; Face; Females; Fistula; Genetic disorders; Genetic testing; Hearing loss; Heart; Hypertension; Infections; Intellectual disabilities; OFCD syndrome; Patients; Pulmonary arteries; Rare diseases; Rubella; Strabismus; Surgery; Teeth; Vietnam; United States > US; OFCD syndrome; BCOR gene; Dental anomalies
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-023-04244-x

Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case. A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient's genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant. Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.