An investigation of dental anomalies in individuals with amelogenesis imperfecta

PURPOSE: To explore the presence of dental anomalies in children with amelogenesis imperfecta (AI) and to describe their distribution across different AI genetic variants. METHODS: This cross-sectional study undertook secondary analysis of data from a primary study of children with AI below 18 years of age. After training and calibration, participants' panoramic radiographs and clinical photographs were assessed for the presence of six dental anomalies (pre-eruptive crown resorption, eruption abnormalities, pulp calcifications, taurodontism, gingival enlargement and anterior open bite). The enamel phenotype was assessed. Dental age was estimated using the Demirjian method and compared with chronological age. The genetic diagnosis, where available, was mapped to the identified dental anomalies. RESULTS: Thirty participants were assessed (16 male, 14 female). Twenty-one (70.0%) had hypomineralised enamel and 9 (30.0%) had hypoplastic enamel. Twenty-two (73.3%) had at least one dental anomaly in addition to the enamel phenotype. One participant was excluded from dental age analysis. Sixteen participants (55.2%) had advanced dental age, 12 (41.4%) had delayed dental age, one had matching ages (3.4%). Twenty-six participants (89.7%) had a dental age within 18 months of their chronological age. Thirteen individuals had known molecular causes for their AI, including FAM83H, LAMB3, ENAM, COL17A1, AMBN, MMP20 and SP6. Amongst these individuals, a range of the dental anomalies considered were observed. CONCLUSION: Several dental anomalies were found to occur alongside AI. Dental age did not appear to vary substantially from chronological age. Dental anomalies should be considered as part of comprehensive clinical and radiographic assessment for those with AI.