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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Clinical features include:

  • biliary hypoplasia, which may be associated with features of pancreatic insufficiency
  • vertebral anomalies - butterfly vertebrae
  • broad, prominent forehead,
  • deep-set widely spaced eyes
  • long straight nose
  • small jaw
  • pruritis
  • hyperlipidamia and xanthomata
  • features of vitamin E deficiency if untreated
  • posterior embryotoxon - an ocular abnormality
  • cardiovascular abnormalities:
    • supravalvular pulmonary stenosis
    • rarely, tetralogy of Fallot

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