Williams syndrome presenting with findings consistent with Alagille syndrome

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 phenotyp...

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Detalles Bibliográficos
Autores principales: Sakhuja, Pankaj, Whyte, Hilary, Kamath, Binita, Martin, Nicole, Chitayat, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317206/
https://www.ncbi.nlm.nih.gov/pubmed/25678968
http://dx.doi.org/10.1002/ccr3.138
Descripción
Sumario: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.

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