Apert syndrome: a case report and discussion

Clinical eye and vision care Pub Date : 1999-12-01 Epub Date: 1999-12-20 DOI:10.1016/S0953-4431(99)00038-7
Melissa J Melott, O.D
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引用次数: 3

Abstract

Apert syndrome is a rare genetic disorder characterized by cranial suture malformations, ocular abnormalities, and syndactyly. Some of the ocular manifestations include proptosis, downward slant of the lateral canthi with a corresponding S-shaped ptosis, strabismus, hypertelorism, and optic atrophy. As appropriate treatment may significantly alter the structural and functional capacity of these patients, it is important to understand the fundamental systemic and ocular features of the disorder. The clinical course of an elderly woman who suffers from systemic and ocular complications of Apert syndrome is presented.

Apert综合征1例报告与讨论
Apert综合征是一种罕见的遗传性疾病,其特征是颅缝线畸形、眼畸形和并指畸形。一些眼部表现包括眼球突出、外眦向下倾斜并伴有相应的s型上睑下垂、斜视、远视和视神经萎缩。由于适当的治疗可能会显著改变这些患者的结构和功能能力,因此了解这种疾病的基本系统和眼部特征非常重要。临床过程的一个老年妇女谁遭受全身和眼部并发症的Apert综合征提出。
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