常染色体显性突变的 MSX1 基因导致牙-甲综合征。
Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome.
机构信息
Oral Medicine and Maxillofacial Radiology, Department of Maxillofacial Diagnostic Sciences, College of Dentistry, Jazan University, Jazan, Kingdom of Saudi Arabia.
Division of Orthodontia, Department of Preventive Dental Sciences, College of Dentistry, Jazan University, Jazan, Kingdom of Saudi Arabia.
出版信息
Pan Afr Med J. 2020 Jul 29;36:229. doi: 10.11604/pamj.2020.36.229.23019. eCollection 2020.
Tooth and Nail Syndrome or Nail Dysplasias with Hypodontiaor Witkop´s Syndrome is an autosomal dominant condition present at birth and improves by age. An early diagnosis is essential to avoid future functional, aesthetic, and psychological problems. Here we report two classic cases with brief clinical, radiological and genetic investigation along with a brief review of literature.
牙甲综合征或伴有缺牙的指甲发育不良或 Witkop 综合征是一种常染色体显性遗传病，出生时即存在，并随年龄增长而改善。早期诊断对于避免未来的功能、美观和心理问题至关重要。我们在此报告了两个经典病例，对其进行了简要的临床、影像学和遗传学研究，并对文献进行了简要回顾。
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