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  • Achondrogenesis type I Relevant markers:
    Broad irregular rib/sFracture/s of rib/sHydropsHypomineralizationHypomineralization of iliac wingsHypomineralization of skullHypoplastic noseHypoplastic thoracic cagePolyhydramniosOmphaloceleShort lower limbsBarrel shaped thoracic cageSevere micromelia
    Parents markers:
    Abnormal head shapeFaceShort limbs
      Incidence:- — 1/40000
      Male — Female Ratio:1 — 1
      Involved genes:
      (gene — definition — chromosome)      		SLC26A2 — 5q32, TRIP11 — 14q32.12
      Inheritance mode:AR
      Other antenatal testing:Skin and cartilage biopsies for fibroblast and chondrocyte cultures allow study of sulfate incorporation
      Other online databases:OMIM, Geneva Foundation
      Links:emedicine.medscape.com, omim.org
      References:
      1996 J Med Genet Review Read on PubMed
      2008 Cases J Case report Read on PubMed
      2009 Ultrasound Obstet Gynecol Case series (8 cases) Read on PubMed
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