Synonyms
Hereditary brown hypoplastic enamel; Hereditary brown teeth; Hereditary enamel aplasia; Hereditary enamel defects; Hereditary enamel dysplasia; Hereditary enamel hypomineralization; Hereditary enamel hypoplasia; Hereditary enamel maturation; Hereditary mineral hypocalcification
Definition
Amelogenesis imperfecta (AI) can be defined as a developmental defect of enamel due to a defective gene affecting all or most of the teeth of both the deciduous and permanent dentitions to some extent. The condition can be inherited as an autosomal dominant, autosomal recessive, or X-linked trait or present as sporadic cases which may represent de novo (spontaneous) mutations in one of the genes involved in enamel matrix deposition and mineralization. The condition can also be seen in association with a number of syndromes. Traditionally AI has been classified according to the perceived phenotype. This assumes that all cases can be neatly subdivided according to whether there is an enamel...
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References and Further Reading
Aldred, M. J., & Crawford, P. J. (1995). Amelogenesis imperfecta – Towards a new classification. Oral Diseases, 1, 2–5.
Aldred, M. J., Savarirayan, R., & Crawford, P. J. (2003). Amelogenesis imperfecta: A classification and catalogue for the 21st century. Oral Diseases, 9, 19–23.
Cameron, A. C., & Widmer, R. P. (Eds.). (2008). Handbook of pediatric dentistry (3rd ed., pp. 246–254). Edinburgh: Mosby-Elsevier.
Online inheritance in man. http://www.ncbi.nlm.nih.gov/omim search amelogenesis imperfecta. Accessed 1 August 2012.
Pindborg, J. J. (1970). Pathology of the dental hard tissues. Philadelphia: WB Saunders.
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Aldred, M., Talacko, A., Steyn, N. (2016). Amelogenesis Imperfecta. In: Slootweg, P.J. (eds) Dental and Oral Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28085-1_656
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