Williams syndrome presenting with findings consistent with Alagille syndrome.
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ABSTRACT:
SUBMITTER: Sakhuja P
PROVIDER: S-EPMC4317206 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Publications
Williams syndrome presenting with findings consistent with Alagille syndrome.
Sakhuja Pankaj P Whyte Hilary H Kamath Binita B Martin Nicole N Chitayat David D
Clinical case reports 20141107 1
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. ...[more]
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