Dentinogenesis imperfect is a hereditary dentin defect leading to discoloration as well as early tooth wear. Timely diagnosis and treatment are required to prevent further tooth loss. Two patients reported to the department of pediatrics dentistry with dentinogenesis imperfecta (DI). In the first case, patient complained of discoloration of both primary and permanent teeth and delayed eruption of permanent teeth. In the second case report, patient reported with mobile anterior tooth and missing teeth due to extraction of mobile teeth. Extraction was followed by space maintainers in the first case, and extraction was followed by partial denture in the second case. Both the patients and their parents were happy with the treatment provided. Kaur A, Kumar S, Karda B, et al. Management of Dentinogenesis Imperfecta: A Report of Two Cases. Int J Clin Pediatr Dent 2019;12(5):464-466.

Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II). This study investigated the phenotypic characteristics and genetic causes of hereditary dentin defects in seven Chinese families. Seven families affected with DGI-II, DGI-III or DD-II were enrolled. Clinical examinations were performed to determine the phenotypic characteristics, and DNA samples were collected for Sanger sequencing. Clinical diagnoses revealed DGI-II in five families, DGI-III in one family and DD-II in one family. Variants of the dentin sialophosphoprotein (DSPP) gene were found in six of the seven families. Of these, c.52G>T was identified in two families. Each of the remaining four families had a different variant: c.2684delG, c.52-2A>G, c.1874-1877delACAG and c.3509-3521del13bp; the last three variants were novel. This is the first study to analyse all three important types of hereditary dentin defect and include comprehensive genetic analyses of both dentin sialoprotein and dentin phosphoprotein in Chinese families. This study expands the spectrum of DSPP variants, highlighting their associated phenotypic continuum.

Dentinogenesis imperfecta (DI) is a hereditary dentin defect caused by an autosomal dominant mutation in dentin sialophosphoprotein gene. Defective dentin development results in discolored teeth that are prone to wear and fracture. Early diagnosis and proper treatment are necessary to achieve better functional and esthetic results and minimize nutritional deficiencies and psychosocial distress. In order to prevent excessive loss of tooth structure, placement of stainless steel crowns (SSCs) on deciduous and young permanent posterior teeth is recommended as soon as such teeth erupt. This clinical report presents the clinical manifestations and management of a 3.5-year-old child diagnosed with DI type II.