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先天性纖維化症候群－病例報告
Congenital Fibrosis Syndrome-A Case Report
摘要
先天性纖維化症候群是一少見的家族性遺傳疾病。本篇報告一名18歲男性病患，自幼皆為下巴朝上，眼瞼下垂，雙眼為內斜及下斜眼位，無法做任何水平或垂直方向之眼球轉動，但上視時，有內聚運動；本篇特提出一病例，敘述其臨床特徵，追蹤其家族罹患情形，並討論其手術治療方法。
關鍵字
無資料並列摘要
Congenital fibrosis syndrome is a rare familial hereditary disease, characterized by fibrotic change of extraocular muscles. Herein we present a typical case with chin up, both eyes are fixed in down and inward gaze, lack of levator function, convergence during intended up gaze. This 18 year-old young man has a positive family history, traced for three generations. Surgical treatment had improved the eye alignment and chin up posture. For lack of Bell's phenomonen, undercorrection of the ptosis is necessary to avoid exposure keratititis.
延伸閱讀
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- Goudar, P. H., Joshi, R., Hiremath, S. V., & Gai, P. B. (2012). Mohr Syndrome: A Rare Case of orofacialdigital Syndrome Type II with Congenital Heart Disease. International Journal of Case Reports and Images (IJCRI), 3(2), 32-35. https://doi.org/10.5348/ijcri-2012-02-94-CR-8