Ghaderi Faezeh, Hekmat Somaye, Ghaderi Reza, Fardaei Majid
Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran;
Iran J Med Sci. 2013 Jun;38(2 Suppl):191-4.
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3'-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies.
维特科普综合征是一种罕见的常染色体显性疾病，其特征为多颗牙齿缺失和指甲异常。本文首次报道了一名2.5岁男孩被诊断出患有罕见的遗传性牙齿和指甲综合征，其乳牙犬齿过早脱落、乳切牙缺失且伴有指甲发育异常。在该先证者的MSX1基因3'-UTR区域鉴定出一个纯合突变。患者的父母没有牙齿和指甲异常情况。
