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Biliary hypoplasia in Williams syndrome
  1. K O’Reilly,
  2. S F Ahmed,
  3. V Murday,
  4. P McGrogan
  1. Royal Hospital for Sick Children, Glasgow, UK
  1. Correspondence to:
    Dr K O’Reilly
    Royal Hospital for Sick Children, Dalnair Street, Yorkhill, Glasgow, UK; oreillykmor{at}


Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported.

  • AST, aspartate aminotransferase
  • ALT, alanine aminotransferase
  • HIDA, hepatobiliary iminodiacetic acid
  • FISH, fluorescent in-situ hybridisation
  • biliary hypoplasia
  • Williams syndrome
  • conjugated hyperbilirubinaemia
  • Alagille syndrome

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