Amelogenesis Imperfecta: Clinical and Consanguinity Study

Background: Amelogenesis imperfecta is a complex group of hereditary conditions characterized by malformation of the dental enamel. Although to be well described in literature, this condition may be related to others local and systemic disorders and present a peculiar hereditary character.

Objectives: The aim of this study was to describe a family with several members affected by amelogenesis imperfecta.

Materials and Methods: This descriptive cross-sectional study was performed to show a family with several members affected by amelogenesis imperfecta. A sample of 39 individuals related to one family residing in a city of southern Ceará State – Brazil. Each member was subjected to clinical and radiological examination and the family pedigree was built.

Results: Of the 39 members, 28 were consanguineous and the amelogenesis imperfecta was detected in 20 subjects (71,42% of consanguineous members). All affected individuals presented a defect in the crystal structure of enamel leads to a mottled enamel with white to brown to yellow colors besides wear of the occlusal or incisal surfaces suggesting the hypomature type of amelogenesis. Radiographically, radiopaque areas inside the pulp (suggesting pulp calcifications) were observed in 20.0% of affected individuals. Additionally, some subjects showed cysts and stones at kidney (25.0%).

Conclusions: The amelogenesis imperfecta, in the studied family, has a dominant genetic character and may be related with kidney changes such as nephrocalcinosis.