Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and pain. It was first described separately fro...

Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors...

background: amelogenesis imperfecta (ai) is an inherited tooth disorder. despite the fact that up to now, several gene muta­tions in mmp20, enam, amelx and klk4 genes have been reported to be associated with ai, many other genes sug­gested to be involved. the main objective of this study was to find the mutations in three major candidate genes including mmp20, enam and klk4 responsible for ai f...

Enamel hypoplasia is a defect in the enamel due to disturbance of ameloblastic function during amelogenesis. The etiology of such a disturbance may be either genetic or environmental in nature. This case report of undetected congenital idiopathic hypoparathyroidism emphasizes the importance of investigating the underlying cause of these enamel defects.