Anomalies of the Primary Dentition in Patients with Oculo-Facio-Cardio-Dental (OFCD) Syndrome

Background Oculo-Facio-Cardio-Dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic variants in BCOR gene primarily affecting structures derived from ectoderm and neural crest, including the eyes, facial region, heart, and dentition. The cardinal dental hallmark is radiculomegaly in the permanent dentition, especially affecting the canines but also observed in incisors and premolars. Since variations in the BCOR gene have been shown to promote dentinogenesis, it seems likely that the primary dentition would be affected as well. However, most of the literature on the subject so far has focused on the permanent dentition. The aim of the present study was to provide a detailed description of the phenotype of the primary dentition in OFCD syndrome. Methods Literature review including patients with genetically verified OFCD syndrome with focus on the primary dentition in combination with description of two new Danish cases. Results The most prominent phenotypic feature in the primary dentition was the presence of radiculomegaly in all cases, where relevant data were available. The tooth type most frequently affected was the canine (mandible > maxilla) followed by the incisors. Delayed eruption of primary teeth and later shedding/persistence was also noted together with fusion of the primary teeth. Conclusions Our findings indicate that radiculomegaly in OFCD syndrome may be present already in the primary dentition. Therefore, early clinical and radiographic evaluation by an experienced pediatric dentist is essential, as dental findings may provide key clues for the diagnosis, and in combination with genetic testing may lead to timely and sufficient treatment intervention resulting in improved oral quality of life for the patient and support earlier recognition and management of OFCD’s ocular, cardiac, and other systemic manifestations.