Resumo

SILVA, Viviane P. da et al. Dentinogenesis imperfecta: family case. RFO UPF [online]. 2016, vol.21, n.1, pp. 109-114. ISSN 1413-4012.

Objective: This study reports the diagnosis method used to identify dentinogenesis imperfecta in six patients of the same family. Case reports: Family diagnosis was established from the anamnesis of the proband and later other family members were asked to attend the service. A pooled analysis of clinical, physical, image, and biochemical tests was performed to complete the final diagnosis. Treatment protocol was performed individually according to the clinical condition of each patient. Final considerations: Dentinogenesis imperfecta is considered a genetic disorder in dentin development, which occurs in the absence of systemic disorders. It is an autosomal-dominant disorder and might be caused by mutations of dentin sialophosphoprotein gene - DSPP. Clinically, it may present enamel translucency, dark coloring, and dentin brittleness, which may lead to severe functional and aesthetic damages to the patient. Hence, diagnosis should be thorough and early, thus avoiding more complex therapeutic interventions with increasing age.

Palavras-chave : Pathology.; Diagnosis.; Complications.; Dentinogenesis imperfecta..