维特科普综合征：一例病例报告。
Witkop's syndrome: A case report.
作者信息
Arora Varuni, Agrawal Kaushal Kishor, Mishra Apurva, Chandra Anil
机构信息
Senior Resident, Department of Prosthodontics, Crowns & Bridges, Faculty of Dental Sciences, King George's Medical University UP, Lucknow, Uttar Pradesh, India.
Assistant Professor, Department of Prosthodontics, Crowns & Bridges, Faculty of Dental Sciences, King George's Medical University UP, Lucknow, Uttar Pradesh, India.
出版信息
J Oral Biol Craniofac Res. 2016 Jan-Apr;6(1):79-81. doi: 10.1016/j.jobcr.2015.07.003. Epub 2015 Dec 19.
Witkop's syndrome is a rare autosomal dominant disorder characterized by tooth and nail abnormalities. It is a variant of ectodermal dysplasia, which is thought to occur in approximately 1 in 100,000 live births. Thus, such a low occurrence and paucity of clearly delineating features make its identification in general population a real challenge. This case report aims to add to the existing literature a commonsense approach of identifying the uncommon thing.
维特科普综合征是一种罕见的常染色体显性疾病，其特征为牙齿和指甲异常。它是外胚层发育不良的一种变体，据认为在每100,000例活产中约有1例发生。因此，如此低的发病率和缺乏明确的特征使得在普通人群中识别它成为一项真正的挑战。本病例报告旨在为现有文献增添一种识别罕见病症的常识性方法。
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