颅面
遗传咨询
牙齿异常
遗传异质性
医学
遗传学
生物
基因
口腔正畸科
表型
作者
Morteza Seifi,Michael A. Walter
摘要
Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal‐dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1 . Here, an overview of the clinical spectrum of ARS is provided. As well, the known underlying genetic defects, clinical diagnostic possibilities, genetic counseling and treatments of ARS are discussed in detail.
科研通智能强力驱动
Strongly Powered by AbleSci AI