The First Case Report Of Regional Odontodysplasia With Auricular Malformation

Regional odontodysplasia (RO) is a rare anomaly in tooth development and presents diagnostic and therapeutic challenges due to its unclear etiology. This novel case highlights the first reported association with auricular malformation, providing insights into embryonic neural crest pathogenesis. A 7-year-old boy presented with left maxillary tooth absence and ipsilateral bifurcated auricle. Clinical examination revealed normal somatic growth and unremarkable ectodermal derivatives. Oral examination revealed mixed dentition with normal eruption patterns and intact morpho-chromatic characteristics in the maxillary right quadrant and bilateral mandibular dentitions. The alveolar ridge of the upper left jaw was flat, with no deciduous teeth or fully erupted permanent teeth detected; only a small cusp of tooth #26 had emerged, and it exhibited an underdeveloped yellow appearance. Panoramic radiographs demonstrated classic “ghost teeth” features in teeth #21-26, characterized by enlarged pulp chambers, diminished enamel density and shortened roots, while tooth #27 exhibited normal development. Whole exome sequencing failed to detect pathogenic variants associated with the phenotype. A multidisciplinary team adopted a conservative approach, which included preserving the dental germ to maintain the potential for jawbone growth and using a temporary removable partial denture with occlusal guidance surfaces. The auriculo-dental association supports the neural crest migration defect hypothesis. Negative genetic findings suggest potential epigenetic or local vascular etiologies. This case underscores three critical mandates in regional odontodysplasia management: compulsory auricular evaluation to assess embryonic neural crest derivatives, transitional prosthodontic rehabilitation preserving maxillofacial growth potential, and prioritized investigation into epigenetic/local vascular etiologies.