Genetic and developmental anomalies

• alpha1-antitrypsin deficiency
  30 May 2003

  alpha-1-antitrypsin deficiency
  Definition: Autosomal recessive disease dut to mutation in the gene PI coding for alpha1-antitrypsin.
  Images
  hepatic alpha1 antitrypsin deficiency
  https://twitter.com/smlungpathguy/status/722895116487110656
  Clinical synopsis
  Dyspnea, onset 35 years in smokers, 45 years in nonsmokers
  Pathological synopsis
  alveolar wall destruction
  panlobar emphysema, especially at bases
  chronic obstructive pulmonary disease (COPD)
  bronchiectasis of larger (...)

• dysmorphism
  28 May 2003

  Types
  craniofacial dysmorphism cranial dysmorphism facial dysmorphism

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