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輔仁醫學期刊

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篇名 Novel ophthalmic findings in a newborn with CHARGE syndrome
卷期 16:1
並列篇名 CHARGE 症候群新生兒合併特殊眼病症
作者 陳怡伶彭繼賢
頁次 017-022
關鍵字 persistent fetal vasculatureCHARGE syndromemicrophthalmos殘留性胎兒血管組織CHARGE 症候群小眼症
出刊日期 201803
DOI 10.3966/181020932018031601002

中文摘要

本文宗旨:於罹患CHARGE 症候群之三十六週女性新生兒偵測到特殊的單側殘 留性胎兒血管組織。方法:回顧性病例報告。結果:此CHARGE 症候群新生兒典型 合併雙眼眼底缺損、心臟缺損、生殖發育不全和右小耳症。在瞳孔放大後,發現左眼 後極部呈現一個又大又深的凹陷,凹陷旁圍繞著巨大的眼底缺損以環狀呈現,並和左 眼視神經相聯合。更特別的是,左眼視神經盤有柄狀血管相連呈現殘留性胎兒血管組 織,超音波偵測明顯顯示此柄狀結構自視神經盤開始往前延伸。結論:殘留性胎兒血 管組織可以發現在CHARGE 症候群之新生兒眼內,臨床須注意此少見徵候。

英文摘要

This retrospective observational case report details a unique finding of unilateral persistent fetal vasculature in a 36-week-old female newborn with CHARGE syndrome. The newborn presented with bilateral ocular coloboma, heart defects, genital hypoplasia, and right microtia. After pupil dilation, a large and deep excavation located centrally in her left eye was observed. The large ring-shaped coloboma was merged with the left optic disc rim. Moreover, persistent fetal vasculature (PFV) was identified from the remnant vascular stalk arising off the optic disc. An echogenic band was observed in the posterior segment of the globe extending from the optic nerve head. This paper thus suggests that PFV can appear in a patient with CHARGE syndrome, and clinicians should be aware of such rare appearance.

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