Dentinogenesis Imperfecta: Relationship of Genotype with Clinical and Radiographic Features

Dentinogenesis Imperfecta (DGI) is the most common hereditary anomaly of human dentin. It is typically diagnosed by clinical and radiographic features. It occurs in isolation or in conjunction with the syndrome osteogenesis imperfecta. Insufficient understanding of its pathophysiology, phenotype-genotype relationships, and variation in disease severity make diagnosis and treatment of DGI a challenge. Objectives: To characterize the phenotype and instigate evaluation of phenotype-genotype correlations in DGI. Methods: Study participants were diagnosed based on major and minor phenotypic features. Phenotyping was completed with clinical and radiographic examination to objectively asses occlusal relations, tooth size and morphology, tooth color, x-ray absorption property, attrition, enamel defect and fracturing. Results: Subjects were classified based on genetic defect (COL1A1/A2, DSPP, controls). Genotype-phenotype correlations were found between the groups. DGI teeth were found to be smaller and more bulbous. Other differences exist between the groups in their dental and skeletal morphology, degree of morbidity and dental shad