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  • Gaucher disease, Type II Relevant markers:
    Arthrogryposis/ContracturesCardiomegalyFlat nasal bridgeHepatomegalyHepatomegalyHydropsHypokinesiaIrregularity in skin surfaceLimb edemaOpen mouthPolyhydramniosProptosis/prominent eyesSmall/collapsed/absent stomachSplenomegalyThick placenta
    Parents markers:
    Thick skinVisceromegaly
      Other antenatal testing:Specific enzymatic activity assay on fetal amniotic fluid cells
      References:
      1997 Prenat Diagn Case report Read on PubMed
      2000 Prenat Diagn Case report Read on PubMed
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