Objective. The purpose of this study was to report on the clinical, radiographic, and histological dental findings and the resulting treatment load in a five-generation family with amelogenesis imperfecta (AI). Material and methods. Thirteen affected and 15 unaffected individuals were examined clinically and radiographically. In addition, four exfoliated deciduous teeth were examined by scanning electron microscopy and microradiography. Results. The mode of inheritance of AI was autosomal-dominant. At eruption, most of the tooth enamel was yellow, lacking translucency, and prone to gradual loss in subjects with AI. Post-eruptive breakdown of enamel was extensive in accordance with the histological observations of hypomineralized and porous enamel. Extensive enamel loss and discoloration were observed in older affected individuals. The treatment need had been extensive: 76.2% of the total number of teeth present in affected individuals had been treated with partial or full coverage compared to 1.7% of the teeth in unaffected relatives. Unaffected individuals had more endodontically treated teeth than AI-affected relatives. Adjunctive findings, e.g. tooth agenesis, tooth impaction, pulp stones, enlarged follicular space, and taurodontism, were rare in both groups. Conclusions. Affected family members had the hypocalcified type of AI, which is characterized by severe hypomineralization, extensive post-eruptive loss, and discoloration of the enamel. Adjunctive findings were rare. Individuals with the hypocalcified type of AI have an extensive restorative treatment load compared to unaffected relatives.
Gjørup, H., Haubek, D., Hintze, H., Haukali, G., Løvschall, H., Hertz, J. M., & Poulsen, S. (2009). Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load. Acta Odontologica Scandinavica, 1-8. https://doi.org/10.1080/00016350902973685