Cornelia de Lange syndrome- Report of the second case from Ahvaz
[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.
[发布日期] [发布机构]
[效力级别] [学科分类] 基础医学
[关键词] [时效性]
