A review of the more relevant clinical, radiological, histopathological and genetics aspects of Dentinogenesis imperfecta (DI) is presented, together with the description of a family with DI. The complete analysis of the affected and non-affected members showed that the defect can be classified as a DI type II with an autosomal dominant mode of inheritance with complete penetrance and variable expressivity. Also it is necessary to emphasize the importance of a multidisciplinary approach (Pedodontists, Oral Pathologists and geneticists) in the description, diagnosis and treatment of the individuals affected with DI.
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- A study examined 91 pediatric OI patients at a national institute, revealing that most had fractures and specific physical traits like blue sclera and bowed legs; treatment typically involved bisphosphonates.
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