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amelogenesis imperfecta


Definition: a group of hereditary ectodermal disorders in which the enamel is defective in structure or deficient in quantity. Three major groups are recognized: hypoplastic types, with defective enamel matrix deposition but normal mineralization; hypomineralization types, with normal matrix but defective mineralization; and hypomaturation type, in which the enamel crystallites remain immature. The several types may be inherited as autosomal dominant [MIM*104500, 104510, 104530], recessive [MIM*204650, 204690, 204700] or X-linked [MIM*301100, 301200, 301201].

Synonym(s): enamel dysplasia, enamelogenesis imperfecta

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.