“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.

To the Editor : Amelogenesis imperfecta (AI) is a collection of nonsyndromic inherited diseases featuring a variety of abnormal enamel phenotypes, patterns of inheritance, and causative genes. The term is also used to indicate the presence of an enamel phenotype in syndromes. Dental enamel is the most highly mineralized tissue in the body, lacks collagen, and is the product of specialized epith...

Active - site Mutation in Hypomaturation Amelogenesis Imperfecta

Hypoplastic Amelogenesis Imperfecta type GI (enamel agenesis): a case report

Background and Aim: Amelogenesis Imperfecta is a hereditary complication that affects the quality and quantity of tooth enamel. This disease usually affects both deciduous and permanent dentition and causes various abnormalities such as unaesthetic appearance, dental sensitivity, and severe attrition. The incidence of this condition is estimated at 1 in 14,000 people. At the moment, there are n...

Case report: clinical management of hypoplastic amelogenesis imperfecta.

BACKGROUND The fundamental therapeutic problems related to amelogenesis imperfecta treatment are governed by the need to effect primary prevention interventions, reducing the risk of calculus accumulation and caries. There are also aesthetic and functional rehabilitative needs. Clinical management rehabilitation techniques vary depending on the AI type, but usually require restoration of affect...

Amelogenesis Imperfecta with Taurodontism, Microdontia, and Minor Thalassemia: A Case Report

Amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. Although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. A 9-year-old girl with minor thalassemia referred to the Department of Pediatric Dentistry of the Mashhad Faculty ...