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Cited by 308

The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.

Amelogenesis imperfecta

Open access
Crawford, Peter JM, Aldred, Michael, Bloch-Zupan, Agnes·2007·Orphanet Journal of Rare Diseases
DOI 10.1186/1750-1172-2-17
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Abstract

Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, sensitive or prone to disintegration. AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamelin gene, ENAM, is implicated in the pathogenesis of the dominant forms of AI. Autosomal recessive AI has been reported in families with known consanguinity. Diagnosis is based on the family history, pedigree plotting and meticulous clinical observation. Genetic diagnosis is presently only a research tool. The condition presents problems of socialisation, function and discomfort but may be managed by early vigorous intervention, both preventively and restoratively, with treatment continued throughout childhood and into adult life. In infancy, the primary dentition may be protected by the use of preformed metal crowns on posterior teeth. The longer-term care involves either crowns or, more frequently these days, adhesive, plastic restorations.

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Metadata

Authors
Crawford, P. J., Aldred, M., & Bloch-Zupan, A.
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2007-04-04
Volume
2
Issue
1
Pages
17-17
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/1750-1172-2-17
OpenAlex
W4206401628
Cited by
308
References
38
FWCI
2.75
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Amelogenesis imperfecta. https://app.cochat.ai/papers/10.1186/1750-1172-2-17
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Crawford, P. J., Aldred, M., & Bloch-Zupan, A. (2007). Amelogenesis imperfecta. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-2-17

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.