Oral–Facial–Digital Syndrome Type I (OFD1) is an X-linked dominant disorder. Nearly all carriers are female, and 75% of cases are sporadic. We report on a 19-year-old girl with OFD1. This case demonstrated unimaxillary disturbance of tooth development. The clinical observations included enamel hypoplasias, atypical pulp and root morphology, and periapical radiolucencies. Over time marginal periodontitis developed with vertical pockets, tooth loosening, gingival abscesses, and pain. As the conditions were refractory to preventive and restorative approaches, a more radical treatment was performed including extraction of maxillary teeth and full upper prosthesis. Diagnostic examination of teeth was performed on histologic sections made by cutting-grinding technique for hard tissues. The examination revealed disordered amelogenesis with extended enamel coverage of the root and enamel inclusions in the dentin. The chaotic morphology of the root surfaces explained the persistent periodontal complications in the maxilla and the patient discomfort. It is suggested that the transition of the enamel organ to Hertwig’s epithelial root sheet has been disturbed regionally by genetic mutations, leading to prolonged enamel formation and disturbance of both cementogenesis and dentinogenesis. The oral status and patient comfort improved significantly following prosthetic treatment.
Schlagwörter: Oral facial digital syndrome type I (OFD1), genetics, amelogenesis, cementogenesis, dentinogenesis, disturbed tooth development and morphology, periodontitis, dentures