Case Report of Rare Syndrome Associating Amelogenesis Imperfecta and Nephrocalcinosis

Abstract

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. AI also named enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Patient presented oral clinicopathological manifestations, includes permanent dentition, alterations in the tooth shape, reduction of the enamel thickness and yellow discoloration with many teeth pulpal exposed, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function.