Open AccessWilliams syndrome presenting with findings consistent with Alagille syndrome
Author(s) -
Sakhuja Pankaj,
Whyte Hilary,
Kamath Binita,
Martin Nicole,
Chitayat David
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.138
Subject(s) - alagille syndrome , medicine , microarray , phenotype , magnetic resonance imaging , pathology , radiology , genetics , gene , cholestasis , biology , gene expression
Key Clinical Message Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.