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  • VACTERL association Relevant markers:
    Absent radiusAbsent stomachClubhandHorseshoe kidneyHypoplastic left ventricleMultiple amputation/reductionNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaShort radiusSmall/collapsed/absent stomachSupernumerary rib/sTracheo-esophageal fistula (TEF)Tetralogy of Fallot (TOF)Polyhydramnios
    Parents markers:
    Ano-rectumEctopic kidneyEsophageal atresiaHeartHemivertebraLimbsPolydactyly of hand/sPyelectasis/hydronephrosisRenal agenesisScoliosisVentriculomegalyVertebral bodyVentricular septal defect (VSD)
      Inheritance mode:Sporadic (new mutation)
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