A Case of Oculo-facio-cardio-dental （OFCD） Syndrome Treated with Orthognathic Surgery Considering the Unique Characteristics of the Condition

Oculo-facio-cardio-dental （OFCD） syndrome is an X-linked dominant genetic disorder characterized by congenital cataracts, facial abnormalities, congenital heart defects, and dental anomalies. The incidence of this syndrome is extremely rare, occurring in approximately 1 in 1 million people. We report the treatment course of a patient with skeletal maxillary retrognathism and mandibular prognathism who had a long canine root and prolonged retention of deciduous incisors due to OFCD syndrome. <br>The patient was a 15-year 5-month-old female. At birth, she had congenital cataracts and an atrial septal defect, but a diagnosis of OFCD syndrome was not made. At the age of 12, she visited our orthodontist for correction of her dental malocclusion and was diagnosed with skeletal maxillary retrognathism and mandibular prognathism. Genetic testing at the pediatric department of our hospital revealed BCOR gene abnormality and the patient was diagnosed with OFCD syndrome. <br>Preoperative orthodontic treatment was started at the age of 15. Orthognathic surgery was performed at the age of 18 years after the completion of preoperative orthodontic treatment. As for the surgical operation, Le Fort I osteotomy （step osteotomy） was performed in the maxilla, taking into consideration the long canine root. Regarding the preoperative orthodontic treatment, in order to preserve the remaining deciduous teeth in the mandible, we limited the vertical and anterior-posterior movement of the incisors, and intentionally formed a step between the canines and molars. A combination of mandibular anterior alveolar osteotomy and bilateral sagittal split ramus osteotomy （SSRO） was used to eliminate the step and retract the mandible. Because the anterior alveolar bone fragments were small and the SSRO’s incision was added posteriorly, a vertical incision was not made, and a horizontal incision was made only at the root apex equivalent to the buccal gingiva in the same area in order to maintain blood flow. As a result, the mandibular prognathism was improved and good occlusion was obtained. Three years have passed since the surgery, and there is no evidence of retroversion or bony fusion of the mandibular anterior teeth. <br>There have been only two reports of surgical corrective treatment for this syndrome. In the present case, we chose a technique that took into account the blood flow to the long canine root and bone fragments; however, in the future it may be necessary to choose a technique that accommodates various dental and skeletal characteristics for OFCD syndrome.