COFS综合征的.ppt

脑-眼-面-骨骼综合征 (CEREBRO-OCULO-FACIO-SKELETAL SYNDROME COFS综合征) 聂欢 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 内容 概念 病因及发病机制 主要特征及常见异常 自然病史 诊断及治疗 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 概念 1974年，Pena和Shokeir首先描述了本病，出生即有脑和脊髓的退行性改变。其特点是小头畸形，先天性白内障，重度智障，面部异形，关节挛缩。Cofs综合征为常染色体隐性遗传病，定位于10q11.23，基因位点为ERCC6. Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 病因学 本病为常染色体隐性遗传病，为科卡尼综合征（Cockayne Syndrome， CS）中病情最为严重的一类，又称先天CS综合征，与三种DNA修复基因CBS、XPG和XPD突变有关，这已在一些COFS患儿中得到证实。 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 主要特征 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 常见异常 脑和神经系统 脑白质减少伴有灰质斑点，第三脑室室管膜下局灶性神经胶质瘤，局灶性小脑回、颞叶和海马回发育不全 视束和视交叉发育不全，胼胝体发育不全 CT扫描见颅内豆状核和半球白质区钙化 偶见新生儿痉挛，全身肌张力减退和反射减弱或消失 感觉神经性耳聋 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 颅面 小头畸形 鼻根突出 耳廓大 上下唇重叠 轻度小颌 常见异常 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 常见异常 眼 眼睑狭小并眼球深陷 小眼畸形 白内障 眼球震颤 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 常见异常 四肢 指屈曲 肘、膝轻度屈曲、挛缩 摇椅足伴垂直距骨 第二跖骨后位，沿第二跖骨的足底有纵沟 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 常见异常 其他 多毛症 脊柱后侧凸 乳距宽 髋臼角变浅，髋外翻 骨质疏松 肾脏缺损 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 自然病史 患婴通常足月产，出生体重正常。大多数患者出生时症状