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
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author Sakhuja, Pankaj
Whyte, Hilary
Kamath, Binita
Martin, Nicole
Chitayat, David
author_facet Sakhuja, Pankaj
Whyte, Hilary
Kamath, Binita
Martin, Nicole
Chitayat, David
author_sort Sakhuja, Pankaj
collection PubMed
description 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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spelling pubmed-43172062015-02-12 Williams syndrome presenting with findings consistent with Alagille syndrome Sakhuja, Pankaj Whyte, Hilary Kamath, Binita Martin, Nicole Chitayat, David Clin Case Rep Case Reports 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. BlackWell Publishing Ltd 2015-01 2014-11-07 /pmc/articles/PMC4317206/ /pubmed/25678968 http://dx.doi.org/10.1002/ccr3.138 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Sakhuja, Pankaj
Whyte, Hilary
Kamath, Binita
Martin, Nicole
Chitayat, David
Williams syndrome presenting with findings consistent with Alagille syndrome
title Williams syndrome presenting with findings consistent with Alagille syndrome
title_full Williams syndrome presenting with findings consistent with Alagille syndrome
title_fullStr Williams syndrome presenting with findings consistent with Alagille syndrome
title_full_unstemmed Williams syndrome presenting with findings consistent with Alagille syndrome
title_short Williams syndrome presenting with findings consistent with Alagille syndrome
title_sort williams syndrome presenting with findings consistent with alagille syndrome
topic Case Reports
url 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
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