Jagtap Rohan, Srivastava Ambika, Jadhav Aniket, Gupta Swati
Department of Care planning and Restorative Sciences, University of Mississippi Medical Center School of Dentistry, Jackson, Mississippi.
Department of Oral and Maxillofacial Radiology, Virginia Commonwealth University School of Dentistry, Richmond, Virginia.
BJR Case Rep. 2020 Jun 24;6(4):20200071. doi: 10.1259/bjrcr.20200071. eCollection 2020 Dec 1.
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.
瓦登伯革氏综合征是一种罕见的神经嵴细胞迁移的常染色体显性遗传病。其特征为先天性感音神经性听力损失、虹膜异色症、毛发和皮肤色素脱失以及内眦间距增宽。它可细分为四个亚型，其中I型和II型最为常见。这些亚型是根据基因突变进行分类的。尽管医学文献对该综合征已有充分记载，但牙科和放射学检查结果却鲜有报道。在本病例报告及文献综述中，我们展示并讨论了一名患有瓦登伯革氏综合征的20岁女孩的口腔以及头颈部放射学检查结果。
