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  • 3M syndrome Relevant markers:
    Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaRhizomelia/short femurRhizomelia/short humerusSevere IUGR/SGAShort long bonesShort thoraxPolyhydramniosNasal bone hypoplasia / aplasiaFlat faceClubfoot
      Involved genes:
      (gene — definition — chromosome)      		CCDC8 — COILED-COIL DOMAIN-CONTAINING PROTEIN 8 — 19q13.32, CUL7 — CULLIN 7 — 6p21.1, OBSL1 — OBSCURIN-LIKE 1 — 2q35
      Inheritance mode:AR
      References:
      2015 BMC Genomics 3 Case reports Read on PubMed
      2016 Eur J Med Genet Case report (two sisters) Read on PubMed
      2016 Geburtshilfe Frauenheilkd Case report (2 cases) Read on PubMed
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