原创力文档Achondroplasia with 47, xxy karyotype a case report of the neonatal diagnosis of an extremely unusual association.docVIP
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Achondroplasia with 47, xxy karyotype a case report of the neonatal diagnosis of an extremely unusual association
Ros-Pérezetal.BMCPediatrics2012,12:88
/1471-2431/12/88
CASE REPORT
OpenAccess
Achondroplasiawith47,xxykaryotype:acase
reportoftheneonataldiagnosisofanextremely
unusualassociation
PurificaciónRos-Pérez1*,FranciscoJRegidor1,EsmeraldaColino1,CristinaMartínez-Payo2,EvaBarroso3
andKarenEHeath3
Abstract
Background:TheassociationofachondroplasiaandKlinefeltersyndromeisextremelyrare.Todate,fivecaseshave
beenpreviouslyreported,allofthemdiagnosedbeyondthepostnatalperiod,andonlyonewasmolecularly
characterized.Wedescribethefirstcaseofthisunusualassociationdiagnosedintheneonatalperiod,theclinical
finding
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