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1、授予單位代碼10089學號或申請?zhí)?0153048中國圖書分類號R722.11HebeiMedicalUniversity碩士學位論文專業(yè)學位CorneliadeLange綜合征1例并文獻復習研究生：俎麗嬌導師：李月梅教授專業(yè)：兒科學二級學院：河北醫(yī)科大學第二醫(yī)院2018年3月目錄中文摘要·····································································································1英文摘要···························
2、··········································································2英文縮寫·····································································································4研究論文CorneliadeLange綜合征1例并文獻復習前言··································································
3、···································5對象與方法································································································5結果·····································································································6附圖··································
4、···································································8附表·····································································································11討論·····································································································12
5、結論·····································································································14參考文獻·································································································15綜述CorneliadeLange綜合征的研究進展·············································
6、··18致謝·····································································································31個人簡歷·····································································································32中文摘要CorneliadeLange綜合征1例并文獻復習摘要目的：探討CorneliadeLange綜合征(CdLS)的臨
7、床特點及研究進展。方法：報道于我院診斷的新生兒CdLS1例，同時針對國內(nèi)、外有關CdLS的臨床研究、病例報道及分子生物學研究進展的文獻進行復習和總結。結果：1.自診患兒存在宮內(nèi)生長遲緩，出生時為小于胎齡兒，具有特殊外貌，存在喂養(yǎng)困難，反復嗆咳，體重增長緩慢。2.目前，國內(nèi)現(xiàn)存的有關CdLS的病例報告中顯示患兒均具有頭小、毛發(fā)濃密、連眉等特殊容貌特征；絕大多數(shù)CdLS患兒伴有智力發(fā)育障礙、反復嘔吐或喂養(yǎng)困難、指骨及生殖器異常等特征，其臨床表現(xiàn)與國外病例報道類似。3.CdLS病因不詳，目前有關CdLS致病基因的報道中表明NIPBL、RAD21、HDAC8
8、、SMC1A和SMC3這五個基因與患CdLS有關，其中NIPBL基因多見。本例病例即為此基因的雜合變異。4.
