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Oral manifestation of Waardenburg syndrome: a case report and review of the literature

Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and...

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Detalles Bibliográficos
Autores principales: Jagtap, Rohan, Srivastava, Ambika, Jadhav, Aniket, Gupta, Swati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709062/
https://www.ncbi.nlm.nih.gov/pubmed/33299596
http://dx.doi.org/10.1259/bjrcr.20200071
Descripción
Sumario:Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome.