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“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
Joint Authors
Bonnet, Anne-Laure
Sceosole, Kevin
Vanderzwalm, Arabelle
Silve, Caroline
Collignon, Anne-Margaux
Gaucher, Celine
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-04
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel.
Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain.
However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions.
Several gene mutations have been linked to AI as a nonsyndromic (isolated) phenotype or a wider syndrome.
This case report aimed to present a family with dental structure anomalies followed up in the dental department of the Louis Mourier Hospital (APHP, France) for their extremely poor dental condition.
The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in DLX3.
Then, the family was further examined for tricho-dento-osseous syndrome.
This report illustrates the challenge of diagnosing dental structure anomalies, specifically AI, in adults and highlights the need for an accurate and accessible molecular diagnosis for those anomalies to discriminate between isolated and syndromic pathologies.
American Psychological Association (APA)
Bonnet, Anne-Laure& Sceosole, Kevin& Vanderzwalm, Arabelle& Silve, Caroline& Collignon, Anne-Margaux& Gaucher, Celine. 2020. “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147259
Modern Language Association (MLA)
Bonnet, Anne-Laure…[et al.]. “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. Case Reports in Genetics No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1147259
American Medical Association (AMA)
Bonnet, Anne-Laure& Sceosole, Kevin& Vanderzwalm, Arabelle& Silve, Caroline& Collignon, Anne-Margaux& Gaucher, Celine. “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147259
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147259