Shruthi RAO, Shruthi HEGDE, Vidya AJİLA, Subhas BABU, Ananya MADİYAL, Sajad Ahmed BUCH

Dentinogenezis imperfecta tip 2 ile ilgili sıradışı özellikler: ailesi üç kuşaktan fazla etkilenmiş iki olgu

Dentinogenesis imperfecta (DI) otozomal dominat genetik bir hastalıktır. Yüksek derecede penetrasyon ve düşük mutasyon oranına sahiptir. DI opalesant dentin ve dişlerde renk değişikliği ile karakterizedir. Dentin şiddetli yıpranmaya maruz kalabilir. Bu durumun erken tanı ve tedavisi, diğer komplikasyonların önlenmesinde ve estetik amaç için gereklidir. Bu çalışmada üç kuşak boyunca DI tip 2 den etkilenmiş bir aileden iki vakanın klinik ve radyolojik özellikleri sunulmuştur. Bu rapor aynı zamanda 16 yaşındaki bir erkekte DI özellikleri ile birlikte odontom ve çoklu dişler gibi nadir görülenözellikleri vurgulamaktadır.

Unusual features associated with dentinogenesis imperfecta type II: report of two cases affecting the family over three generations

Dentinogenesis imperfecta (DI) is an autosomal dominant genetic disease. It has a high degree of penetrance and a very low mutation rate. DI is characterized by opalescent dentin and discoloration of the teeth. The exposed dentin may undergo severe attrition. Early diagnosis and management of this condition is essential for the prevention of further complications and for the aesthetic purpose. We present clinical and radiographic features of two cases of DI type II affecting the family over three generations. This report also highlights rare features such as odontome, multiple impacted teeth and retained deciduous teeth along with features of DI in a 16-years old male.

Keywords:

Dentinogenesis imperfecta, autosomal dominant, dentin.,

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