Amelogenesis imperfecta (AI) describes often severe, largely Mendelian biomineralisation defects of tooth enamel. AI enamel can be abnormally thin, soft, fragile, pitted and/or badly discoloured, resulting in major morbidity as patients have difficulty maintaining oral hygiene, experience  low self-esteem due to poor aesthetics and report an inferior quality-of-life. Improved understanding of biomineralisation defects in AI would assist in clinical management of AI patients. Dental Volumetric Tomography (DVT, commonly known as Cone Beam CT scanning) is a diagnostic X ray based methodology that produces  three -dimensional anatomical images of the skeletal tissues (including the teeth).  The aim of this study was to investigate the use of DVT to provide detailed dental anatomy associated with AI.  A Morita Veraviewpocs 3D R 100 was used to generate high definition 3D digital images of the maxillae of eight AI-affected volunteers (ethics approval N 440–B2-334 U.C.R.).  Pulpal calcifications of varying size, Dens in Vaginitus, dental cysts, root fractures, retained teeth and anomalies in the position of the mandibular canal were all common findings. The data also revealed enamel surface irregularities in an unerupted tooth.  In conclusion, use of DVT in AI would facilitate phenotyping by providing identification of dental/oral defects with greater accuracy and definition compared with conventional panoramic radiographs. The data could also be used to aid diagnostics, e.g. by permitting discrimination between hypoplastic enamel (diminished enamel volume) and hypomineralized enamel (failure of normal biomineralization). However, given the high costs associated with DVT and the radiation risks for individual patients, it is best indicated as a research tool for academic and clinical research proposes.

Keywords: Amelogenesis imperfect, Dental Volumetric Tomography, Phenotyping findings.