Open AccessOral manifestation of Waardenburg syndrome: a case report and review of the literature
Author(s) -
Rohan Jagtap,
Alaka Srivastava,
Aniket Jadhav,
Swati Gupta
Publication year - 2020
Publication title -
bjr case reports
Language(s) - English
Resource type - Journals
ISSN - 2055-7159
DOI - 10.1259/bjrcr.20200071
Subject(s) - waardenburg syndrome , depigmentation , medicine , dermatology , pigmentation disorder , neural crest , hearing loss , congenital hearing loss , head and neck , sensorineural hearing loss , pediatrics , audiology , genetics , surgery , biology , gene , phenotype
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.