Cleft palate in Williams syndrome

Williams–Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the “elastin” gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not consi...

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Autores principales: Domenico, Scopelliti, Orlando, Cipriani, Graziana, Fatone Flavia Maria, Papi, Piero, Giulia, Amodeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645618/
https://www.ncbi.nlm.nih.gov/pubmed/23662266
http://dx.doi.org/10.4103/2231-0746.110071
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author Domenico, Scopelliti
Orlando, Cipriani
Graziana, Fatone Flavia Maria
Papi, Piero
Giulia, Amodeo
author_facet Domenico, Scopelliti
Orlando, Cipriani
Graziana, Fatone Flavia Maria
Papi, Piero
Giulia, Amodeo
author_sort Domenico, Scopelliti
collection PubMed
description Williams–Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the “elastin” gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations.
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spelling pubmed-36456182013-05-09 Cleft palate in Williams syndrome Domenico, Scopelliti Orlando, Cipriani Graziana, Fatone Flavia Maria Papi, Piero Giulia, Amodeo Ann Maxillofac Surg Case Report Williams–Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the “elastin” gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3645618/ /pubmed/23662266 http://dx.doi.org/10.4103/2231-0746.110071 Text en Copyright: © Annals of Maxillofacial Surgery http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Domenico, Scopelliti
Orlando, Cipriani
Graziana, Fatone Flavia Maria
Papi, Piero
Giulia, Amodeo
Cleft palate in Williams syndrome
title Cleft palate in Williams syndrome
title_full Cleft palate in Williams syndrome
title_fullStr Cleft palate in Williams syndrome
title_full_unstemmed Cleft palate in Williams syndrome
title_short Cleft palate in Williams syndrome
title_sort cleft palate in williams syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645618/
https://www.ncbi.nlm.nih.gov/pubmed/23662266
http://dx.doi.org/10.4103/2231-0746.110071
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AT papipiero cleftpalateinwilliamssyndrome
AT giuliaamodeo cleftpalateinwilliamssyndrome

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