Dentinogenesis Imperfecta Type I Associated with Osteogenesis Imperfecta: Clinical, Radiographic, and Histopathological Findings

Background: Dentinogenesis imperfecta (DI) is an autosomal dominant hereditary developmental defect of dentin that affects both primary and permanent teeth. DI Type I is linked with OI (osteogenesis imperfecta), a generalized connective tissue disorder characterized by increased bone fragility and deformities. Case presentation: A 26-years-old male patient came to our clinic with a complaint about the necessity to replace the lost mandibular teeth. The patient stated that his teeth have always been discolored brownish since childhood. Besides, he suffered from chips and fractures during his daily activities and several teeth had been extracted earlier. The patient also mentioned his lower limbs deformities since childhood and a family history of progressive hearing loss in his brother. Upon examination, the patient was tall, his sclera had a greyish-blue coloration, and he had many lower limb deformities. Dental examination findings included severe tooth discoloration, multiple chipped enamel and severe attrition with extreme loss of height of the occlusal surface. Radiographic examination revealed that all the pulp chambers and roots of the mandibular teeth were obliterated. At the same time, a lateral skull X-ray showed Wormian bones. A ground section of the 26 tooth without staining showed highly irregular dentinal tubules and obliterated pulp chamber. Discussion: All the clinical, oral, radiographic, and genetic examination findings allowed us to diagnose the patient with Dentinogenesis imperfecta Type I and Osteogenesis imperfecta. We extracted the severely worn-out and unrestorable teeth 16, 15, and 26 and constructed an overdenture to restore the patient’s aesthetics and maintain the vertical dimension of his mandible. Conclusion: The case highlights the importance of considering DI as a part of the systemic disease when diagnosing patients with hereditary Dentinogenesis. Combined oral and radiographic examinations are essential for the accurate diagnosis of DI Type I because of the high risk of various associated complications such as visual defects, hearing impairment, and osteopenia. A thorough clinical and radiographic assessment of the patient’s oral cavity and the whole body allowed us to develop a successful treatment plan for the patient.