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  • Zellweger syndrome Relevant markers:
    CataractClinodactyly 5th fingerHepatomegalyMacrophtalmiaMacrosomiaMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolycystic (enlarged echogenic) kidney/sTalipesEchogenic bowel
    Parents markers:
    Abnormal head shapeAgenesis of corpus callosum (ACC)BrainHeartIntrauterine growth retardation (IUGR/SGA/FGR)Visceromegaly
      Male — Female Ratio:1 — 1
      Involved genes:
      (gene — definition — chromosome)      		7p21
      Inheritance mode:AR
      Other antenatal testing:reduced peroxisomes and abnormal lipid metabolism in fibroblasts/blood cells
      References:
      2014 J Obstet Gynaecol Res Case series (2 cases) Read on PubMed
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