软骨发育不全的.pptVIP

软骨发育不全 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 主要影响长骨，临床表现为特殊类型的侏儒-短肢型侏儒 是一种由于软骨内骨化缺陷的先天性发育异常 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 第4对染色体 软骨发育不全为常染色体显性遗传性疾病，有很大一部分病例为死胎或在新生儿期即死亡 1 短臂 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 临床 表现 患儿一出生可发现 1.躯干正常，肢体较短，头颅不相称的大。 2.臀部特征性突出 3.“三叉戟”状手 4.下肢呈弓形 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 特 征 面部特征为鼻梁塌陷、下颌突出及前额宽大。 婴儿期即可有胸椎后凸畸形。 枕骨大孔狭窄在患儿中也比较常见，主要症状为腰腿痛及间歇性跛行。智力一般不受影响。 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 风 险 大多数病例是由未患病父母发生了完全不能预测的基因突变所引起的。遗传咨询可以帮助患病成人进行选择性生育。 双方都带病的夫妇 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. 父母亲一方为Aa，另一方正常，那么小孩患病机率为50％，若双方均Aa，那么小孩有75％的机率患病，25％的机率不患病。 Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd. THANKS Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.