cornelia de lange综合征1例并文献复习

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1、授予单位代码10089学号或申请号20153048中国图书分类号R722.11HebeiMedicalUniversity硕士学位论文专业学位CorneliadeLange综合征1例并文献复习研究生：俎丽娇导师：李月梅教授专业：儿科学二级学院：河北医科大学第二医院2018年3月目录中文摘要·····································································································1英文摘要···························

2、··········································································2英文缩写·····································································································4研究论文CorneliadeLange综合征1例并文献复习前言··································································

3、···································5对象与方法································································································5结果·····································································································6附图··································

4、···································································8附表·····································································································11讨论·····································································································12

5、结论·····································································································14参考文献·································································································15综述CorneliadeLange综合征的研究进展·············································

6、··18致谢·····································································································31个人简历·····································································································32中文摘要CorneliadeLange综合征1例并文献复习摘要目的：探讨CorneliadeLange综合征(CdLS)的临

7、床特点及研究进展。方法：报道于我院诊断的新生儿CdLS1例，同时针对国内、外有关CdLS的临床研究、病例报道及分子生物学研究进展的文献进行复习和总结。结果：1.自诊患儿存在宫内生长迟缓，出生时为小于胎龄儿，具有特殊外貌，存在喂养困难，反复呛咳，体重增长缓慢。2.目前，国内现存的有关CdLS的病例报告中显示患儿均具有头小、毛发浓密、连眉等特殊容貌特征；绝大多数CdLS患儿伴有智力发育障碍、反复呕吐或喂养困难、指骨及生殖器异常等特征，其临床表现与国外病例报道类似。3.CdLS病因不详，目前有关CdLS致病基因的报道中表明NIPBL、RAD21、HDAC8

8、、SMC1A和SMC3这五个基因与患CdLS有关，其中NIPBL基因多见。本例病例即为此基因的杂合变异。4.