首页> 外文期刊>Jundishapur Scientific Medical Journal >Cornelia de Lange syndrome- Report of the second case from Ahvaz
【24h】

Cornelia de Lange syndrome- Report of the second case from Ahvaz

机译:Cornelia de Lange综合征-Ahvaz第二例病例报告

获取原文
获取外文期刊封面目录资料

摘要

CorneliadeLangesyndrome(CdLS)isararehereditarydisease,characterizedbyseveregrowthretardation,microcephaly,andlimbanomalies,distinctivedysmorphicfeaturesandmentalretardation.Theetiologyisnotstillclear.However,itiscausedbymutationofthenipped-B-like(NIPBL)geneinapproximately50%ofcases.Here,wereportoursecondcaseofCdLSfromAhvazafter19years.Thepatientwasa15-monthgirladmittedinourcenterduetourinarytractinfection.Shehadcharacteristicdysmorphicfeatures,microcephaly,growthanddevelopmentalretardation,upperandlowerlimbdefects,associatedwithrenalcystanddysplasia.CdLSisararehereditarysyndromewithseverecongenitalanomalies.Thediagisisispracticallybasedonthecharacteristicphenotype.Thefurtherprognosisispoor.
机译:CorneliadeLangesyndrome(CDLS)isararehereditarydisease,characterizedbyseveregrowthretardation,小头畸形,andlimbanomalies,distinctivedysmorphicfeaturesandmentalretardation.Theetiologyisnotstillclear.However,itiscausedbymutationofthenipped-B样(NIPBL)geneinapproximately50%ofcases.Here,wereportoursecondcaseofCdLSfromAhvazafter19years.Thepatientwasa15-monthgirladmittedinourcenterduetourinarytractinfection.Shehadcharacteristicdysmorphicfeatures,小头畸形,growthanddevelopmentalretardation,upperandlowerlimbdefects,associatedwithrenalcystanddysplasia.CdLSisararehereditarysyndromewithseverecongenitalanomalies。诊断实际上是根据特征表型进行的。预后较差。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号