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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The aetiology of ulnar dysplasia is unknown but suggested theories include:

  • genetic:
    • sporadic gene mutation most frequent
    • occasionally autosomal dominant familial predisposition
    • syndromic associations, inherited in an autosomal dominant manner:
      • orofacial malformations
      • Cornelia de Lange's syndrome
      • Schinzel Syndrome
      • femur-fibula-ulna syndrome
  • extrinsic:
    • hormonal exposure
    • no clear link with thalidomide exposure

One pathogenetic theory is that of an injury to the zone of polarizing activity which dictates the morphogen gradient governing antero-posterior patterning

 

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