schwartz Jampel综合征:最罕见的病例/眼睑痉挛的罕见原因

Pediatrics & therapeutics : current research Pub Date : 2017-05-10 DOI:10.4172/2161-0665.1000318

V. Badlani, M. Rajan, Senthil T. Nathan, Bina John, Shreyas N. Shah

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引用次数: 0

摘要

我们报告了一例4岁女孩的左眼无法睁开，这被确定为眼睑痉挛。她还被发现有嘴唇紧闭、小颌和面部皱纹，所有这些都是Schwartz-jample综合征的特征。Schwartz-jample综合征是一种罕见的疾病，其1号染色体上的HSPG基因发生突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of Blepharospasm

We report a case of 4 year old girl presenting with the inability to open her left eye, which was identified as blepharospasm. She was also found to have pursed lips, micrognathia and puckered facial appearance, all of which are characteristic of Schwartz jample syndrome. Schwartz jample syndrome is a rare disorder that harbors a mutation in the HSPG gene on chromosome 1.

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Pediatrics & therapeutics : current research

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