Axenfeld-Rieger综合征1例报告并文献复习

Zakoun M, Belghmaidi S
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摘要

Axenfeld-Rieger综合征(ARS)是一种罕见的常染色体显性遗传病,具有全身性和眼前段发育不良。眼部表现为胚胎后宫缩、虹膜及前角异常,易发生青光眼及失明。全身性表现包括颅面异常,如上颌发育不全、下颌发育不全、少齿和小齿。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Axenfeld-Rieger Syndrome: A Case Report with Literature Review
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder that has both systemic and ocular anterior segment dysgenesis. The ocular manifestations include posterior embryotoxon, iris and anterior angle abnomalies with a high risk of glaucoma and blindness. The systemic manifestations can include craniofacial abnomalies such as maxillary hypoplasia, hypodontia, oligodontia and microdont.
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