Refika SİRMA DOKUZBOY, Fatma Nur Sari, E. Çakar, Şehribanu Işik, A. Yazici, Evrim ALYAMAC DİZDAR
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引用次数: 0

摘要

在这篇文章中,我们的目的是代表一个新生儿死亡病例的CHARGE综合征和做一个小回顾的文献,以强调广泛的先天性异常和临床症状的个体与CHARGE综合征在生命早期面临。这个病人,他特有的畸形特征、先天性心脏缺陷和严重的喂养不耐受,是一个很好的例子,说明了这种综合征可能有多复杂。CHARGE综合征可能影响许多器官系统,并导致一些严重的早期致死病例,而一些病例表现出非常轻微的表型谱,可能无法识别。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fatal Seyirli Bir Neonatal CHARGE Sendromu Olgusu ve Kısa Literatür Taraması
In this article, we aim to represent a neonatal fatal case of CHARGE syndrome and make a mini-review of the literature to underline the wide range of congenital abnormalities and clinical symptoms of individuals with CHARGE syndrome face early in life. This patient, with his characteristic dysmorphic features, congenital heart defects, and severe feeding intolerance, is a good example of how complex the syndrome could be. CHARGE syndrome might affect numerous organ systems and result in severe early lethal cases for some, while some of the cases show a very mild phenotypic spectrum and may go unrecognized.
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