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Epidemiology of isolated preaxial polydactyly type I Data from the Polish Registry of Congenital Malformations (PRCM).doc

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Epidemiology of isolated preaxial polydactyly type I Data from the Polish Registry of Congenital Malformations (PRCM)

Materna-Kiryluketal.BMCPediatrics2013,13:26 /1471-2431/13/26 RESEARCH ARTICLE OpenAccess Epidemiologyofisolatedpreaxialpolydactyly typeI:DatafromthePolishRegistryof CongenitalMalformations(PRCM) AnnaMaterna-Kiryluk1*,AleksanderJamsheer1,KatarzynaWisniewska2,BarbaraWieckowska3,JanuszLimon4, MariaBorszewska-Kornacka5,HenrykaSawulicka-Oleszczuk6,EwaSzwalkiewicz-Warowicka7 andAnnaLatos-Bielenska1 Abstract Background:Polydactylyrepresentsaheterogeneousgroupofcongenitalhandandfootanomalieswithvariable clinicalfeaturesanddiverseetiology.PreaxialpolydactylytypeI(PPD1)isthemostfrequentformofpreaxial polydactyly.TheetiologyofsporadicPPD1remainslargelyunknownandtherelativecontributionofgeneticand environmentalfactorsisnotclearlydefined.Theprimarygoalsofthisstudyaretwofold:(1)toexaminethe epidemiologyandclinicalfeaturesofsporadicPPD1incomparisontoahealthycontrolgroup,and(2)tocontrast thecharacteristicsofsporadicPPD1withfamilialformsofisolatedpolydactyly. Methods:Among2,530,349livebirthsregisteredinthePolishRegistryofCongenitalMalformations(PRCM),we identified459childrenwithisolatedsporadicPPD1and353childrenwithfamilialpolydactyly,including57children withfamilialPPD1. Results:Incomparisonwiththematchedgroupof303controls,sporadicPPD1caseshadsignificantlylowerbirth order(P=0.01)andbirthweight(P0.0001).Similarly,whencomparedtofamilialcasesofpolydactyly,lowerbirth order(P=0.047)andlowerbirthweight(P0.0001)werecharacteristicofsporadicPPD1cases.Moreover,our analysessuggestedseveraladditionalriskfactorsforsporadicPPD1,includinglowerpaternaleducationlevels (P=0.01),upperrespiratorytractinfectionsduringthefirsttrimesterofpregnancy(P=0.049),andmaternalhistory ofepilepsy(P=0.01). Conclusions:Insummary,ourstudyprovidessupporttothehypothesisthatnon-geneticfactorsplayanimportant roleintheetiologyofnon-familiarPPD1. Keywords:Polydactyly,PreaxialpolydactylytypeI,Registry Background appears more heterogeneous than the postaxial form. Polydactyly represents a heterogeneous group of con- There