Williams Syndrome with a “Twist”

Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetio...

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Detalles Bibliográficos
Autores principales: Maritsi, Despoina, Kossiva, Lydia, Vartzelis, George
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892695/
https://www.ncbi.nlm.nih.gov/pubmed/20592989
http://dx.doi.org/10.1155/2010/726845
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author Maritsi, Despoina
Kossiva, Lydia
Vartzelis, George
author_facet Maritsi, Despoina
Kossiva, Lydia
Vartzelis, George
author_sort Maritsi, Despoina
collection PubMed
description Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.
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spelling pubmed-28926952010-06-30 Williams Syndrome with a “Twist” Maritsi, Despoina Kossiva, Lydia Vartzelis, George Case Rep Med Case Report Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology. Hindawi Publishing Corporation 2010 2010-06-16 /pmc/articles/PMC2892695/ /pubmed/20592989 http://dx.doi.org/10.1155/2010/726845 Text en Copyright © 2010 Despoina Maritsi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Maritsi, Despoina
Kossiva, Lydia
Vartzelis, George
Williams Syndrome with a “Twist”
title Williams Syndrome with a “Twist”
title_full Williams Syndrome with a “Twist”
title_fullStr Williams Syndrome with a “Twist”
title_full_unstemmed Williams Syndrome with a “Twist”
title_short Williams Syndrome with a “Twist”
title_sort williams syndrome with a “twist”
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892695/
https://www.ncbi.nlm.nih.gov/pubmed/20592989
http://dx.doi.org/10.1155/2010/726845
work_keys_str_mv AT maritsidespoina williamssyndromewithatwist
AT kossivalydia williamssyndromewithatwist
AT vartzelisgeorge williamssyndromewithatwist

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