Biliary hypoplasia in Williams syndrome.
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.
O'Reilly
K
K
Royal Hospital for Sick Children, Glasgow, UK. oreillykmor@yahoo.co.uk
Ahmed
S F
SF
Murday
V
V
McGrogan
P
P
D016738:Alagille Syndrome / Q000175:diagnosis; D001659:Biliary Tract / Q000002:abnormalities*; D003951:Diagnostic Errors; D004549:Elastin / Q000235:genetics; D006801:Humans; D006932:Hyperbilirubinemia / Q000473:pathology*; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D018980:Williams Syndrome / Q000097:blood / Q000235:genetics / Q000473:pathology*
D004549:Elastin