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阿舍尔综合征:一例罕见病例报告。

Ascher's syndrome: A rare case report.

作者信息

Chandravanshi Shivcharan Lal, Mishra Vinay

机构信息

Department of Ophthalmology, Shyam Shah Medical College, Rewa, Madhya Pradesh, India.

出版信息

Indian J Ophthalmol. 2015 Mar;63(3):264-7. doi: 10.4103/0301-4738.156933.

Abstract

An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

摘要

一名18岁的印度女孩,有上唇畸形,双侧上眼睑反复出现无痛性肿胀3年。临床评估发现双侧睑皮松弛症、睑裂水平变窄、外眦间距减小、虹膜缺损、腭裂、悬雍垂裂、感音神经性耳聋和双侧上唇。甲状腺临床检查、甲状腺激素测定及超声检查显示甲状腺结构和功能正常。诊断为阿舍尔综合征。据我们所知,这是首例报道的与虹膜缺损、虹膜异色症相关的阿舍尔综合征病例,以及由于外眦韧带延长导致睑裂水平变窄和外眦间距减小。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce07/4448243/e149ca8ae8da/IJO-63-264-g001.jpg

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