Dental findings in patient with brittle bone disease

Abstract

Osteogenesis imperfecta (OI) or brittle bone disease is genetically heterogeneous connective tissue disorder which is characterized by skeletal deformities due to fragile bone, reduced bone mass and frequent fractures. The genetic mutations in collagen genes, COL1A1 and COL1A2 are responsible for the pathogenesis of OI. The clinical and radiological features of OI manifest in different age groups and severity of the condition depends on the type of OI. The common clinical findings include recurrent and multiple fractures, laxity of the ligaments, blue sclera, growth retardation, and scoliosis. OI is commonly associated with Dentinogenesis imperfect; (DI) which is characterised by defective dentin formation. Here we report a rare case of OI type IV (Group A) with dental manifestations such as micrognathia, retained primary teeth, class III malocclusion, crossbite, multiple impacted teeth, and delayed eruptions.