阿拉格尔综合征儿童板层性白内障1例。

Sudarshan Khokhar, Deeksha Rani, Vaibhav Namdev, Aishwarya Rathod, Saumya Kumar
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引用次数: 0

摘要

阿拉吉尔综合征是一种以常染色体显性方式遗传的多系统疾病,具有可变的表型表现。典型特征包括肝内胆管缺乏,蝶状椎骨,典型相,axenfeld异常(后胚胎弓形)和心脏异常。由于这种综合征具有典型的眼部关联,眼科医生在诊断这种疾病时也起着重要的作用。眼部特征包括后胚胎瘤、角膜膜瘤、绒毛膜视网膜异常和后囊膜下白内障。我们报告一个幼儿,诊断为Alagille综合征谁提出了我们的视觉显著板层性白内障在双眼。据我们所知,这是第一例报告板层性白内障的幼儿与Alagille综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Lamellar cataract in a child with Alagille syndrome.

Alagille syndrome is a multisystem disorder inherited in an autosomal dominant manner with a variable phenotypic presentation. Typical features include intrahepatic bile duct paucity, butterfly-shaped vertebrae, typical facies, axenfeld anomaly (posterior embryotoxon) and cardiac abnormalities. Since this syndrome has typical ocular associations, ophthalmologists also have an important role in diagnosing the condition. Ocular features include posterior embryotoxon, corneal pannus, chorioretinal abnormalities and posterior subcapsular cataract. We report a toddler, diagnosed with Alagille syndrome who presented to us with a visually significant lamellar cataract in both eyes. To the best of our knowledge, this is the first case reporting lamellar cataract in a toddler with Alagille syndrome.

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