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  • Campomelic dysplasia Relevant markers:
    Bowed femurBowed tibiaClubfootFlat faceHigh foreheadHypertelorismHypoplastic thoracic cageLow set ear/sMicrognathia/retrognathiaMissing rib/sNarrow thoraxNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosProminent occiputRhizomelia/short femurScapular hypoplasiaShort fibulaShort tibiaTalipes
    Parents markers:
    BrainCleft in soft palateEarsHeartIntrauterine growth retardation (IUGR/SGA/FGR)KidneysPyelectasis/hydronephrosisScoliosisShort limbsVentriculomegaly
      Incidence:- — 2/100000
      Male — Female Ratio:2 — 1
      Involved genes:
      (gene — definition — chromosome)      		SOX9 — SRY 17q24
      Inheritance mode:AR, Sporadic (new mutation)
      Other online databases:OMIM
      References:
      2008 Fetal Diagn Ther Read on PubMed
      2010 Ultrasound Obstet Gyneco Read on PubMed
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