Brittle teeth with brittle bone in a family for four generations: Case report and literature review

Abstract

Dentinogenesis imperfect (DI) is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth. Shield around 30 years ago classified DI into 3 types (type I, II, and III). DI type I is associated with osteogenesis imperfect (OI), which is an inheritable disorder of connective tissue. Bone fragility and fracture of bone with minor trauma are hallmarks of this disorder. The objective of this article is to report and review a rare case of DI with OI affecting 4 generations of the family. Through this article, we intend to highlight genetic influence that affected a family for many generations, discuss the oral manifestations that can lead to the diagnosis of OI, and the importance of early diagnosis of OI.