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

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Tung Thanh Nguyen, Anh Thai Hoang Truong, Vu Anh Hoang, Duong Van Huynh, Tuan Van Nguyen, Chanh Trung Le, Dung Thi Phuong Dang, Minh Huu Nhat Le

Published: 04 Jan 2024, Last Modified: 30 Nov 2025Journal of Medical Case ReportsEveryoneRevisionsCC BY-SA 4.0
Abstract: 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.