Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots

Abstract

Genetic disorders of the dentin are known for several years, and reviews have been published mainly in the form of case reports. Dentinogenesis imperfecta (DI) is a disease characterized by an abnormal formation and abnormal structure of the dentin, generally affecting both primary and permanent dentition. The only epidemiological data available were published in 1975 by Witkop, who estimated the incidence of dentinogenesis imperfecta to be between 1/6000 and 1/8000. We present a case of DI III with an unusual presentation of rhizomegaly, dilacerations of the root, and taurodontism, seldom reported in the English literature for any genetic disorder of dentin. Clinical management is challenging in such cases, as the literature mentions that only an early diagnosis and early treatment with periodic follow-up can help improve the quality of life. Psychological and genetic counseling along with a multidisciplinary approach is mandatory for the cases such as the one presented here. Patient education and motivation had a paramount role in making the patient accept the treatment.