'Isolated' Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Autor: Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Case Reports in Genetics, Vol 2020 (2020)
Druh dokumentu: article
ISSN: 2090-6544
2090-6552
DOI: 10.1155/2020/8217919
Popis: 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.
Databáze: Directory of Open Access Journals
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