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Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity
Ellis–van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-ye...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810919/ https://www.ncbi.nlm.nih.gov/pubmed/27076836 |
Sumario: | Ellis–van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. |
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