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首页> 外文期刊>American journal of medical genetics, Part A >Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.
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Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.

机译:浮港综合征和髓内脊髓神经节神经胶质瘤:病例报告和文献观察。

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摘要

We report on a 5-year-old male with expressive language delay, developmental delay, short stature, and facial anomalies consistent with Floating-Harbor syndrome (FHS). In addition, he developed an intramedullary ganglioglioma. This is the first reported case of a tumor associated with FHS, and may represent an as yet undefined genetic link between spinal cord tumors and FHS, adding this syndrome to the growing list of disorders with a predisposition for tumor development.
机译:我们报告了一名5岁男性,其表现语言延迟,发育延迟,身材矮小和面部异常与Floating-Harbor综合征(FHS)一致。此外,他还发展了髓内神经胶质瘤。这是首次报道的与FHS相关的肿瘤病例,可能代表了脊髓肿瘤与FHS之间尚未确定的遗传联系,这使该综合征增加了越来越多的疾病易感性疾病。

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