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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Competing interests: none declared
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