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

Tung Thanh NguyenAnh Thai Hoang TruongVu Anh HoangDuong Van HuynhTuan Van NguyenChanh Trung LeDung Thi Phuong Dang Minh Huu Nhat Le

Published in: Journal of medical case reports (2024)

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.

Keyphrases

oral health
copy number
heart failure
optical coherence tomography
gene expression
deep learning
dna methylation
atrial fibrillation
transcription factor
neural network
cataract surgery