Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

KEY CLINICAL MESSAGE: Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first recipr...

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Autores principales: Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C, Rossi, Sabrina, Delezoïde, Anne L, Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184624/
https://www.ncbi.nlm.nih.gov/pubmed/25356238
http://dx.doi.org/10.1002/ccr3.48
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author Marcato, Livia
Turolla, Licia
Pompilii, Eva
Dupont, Celine
Gruchy, Nicolas
De Toffol, Simona
Bracalente, Gabriella
Bacrot, Severine
Troilo, Enzo
Tabet, Anne C
Rossi, Sabrina
Delezoïde, Anne L
Baldo, Demetrio
Leporrier, Nathalie
Maggi, Federico
Molin, Arnaud
Pilu, Gianluigi
Simoni, Giuseppe
Vialard, Francois
Grati, Francesca R
author_facet Marcato, Livia
Turolla, Licia
Pompilii, Eva
Dupont, Celine
Gruchy, Nicolas
De Toffol, Simona
Bracalente, Gabriella
Bacrot, Severine
Troilo, Enzo
Tabet, Anne C
Rossi, Sabrina
Delezoïde, Anne L
Baldo, Demetrio
Leporrier, Nathalie
Maggi, Federico
Molin, Arnaud
Pilu, Gianluigi
Simoni, Giuseppe
Vialard, Francois
Grati, Francesca R
author_sort Marcato, Livia
collection PubMed
description KEY CLINICAL MESSAGE: Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
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spelling pubmed-41846242014-10-29 Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome Marcato, Livia Turolla, Licia Pompilii, Eva Dupont, Celine Gruchy, Nicolas De Toffol, Simona Bracalente, Gabriella Bacrot, Severine Troilo, Enzo Tabet, Anne C Rossi, Sabrina Delezoïde, Anne L Baldo, Demetrio Leporrier, Nathalie Maggi, Federico Molin, Arnaud Pilu, Gianluigi Simoni, Giuseppe Vialard, Francois Grati, Francesca R Clin Case Rep Case Reports KEY CLINICAL MESSAGE: Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature. Blackwell Publishing Ltd 2014-04 2014-02-06 /pmc/articles/PMC4184624/ /pubmed/25356238 http://dx.doi.org/10.1002/ccr3.48 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Marcato, Livia
Turolla, Licia
Pompilii, Eva
Dupont, Celine
Gruchy, Nicolas
De Toffol, Simona
Bracalente, Gabriella
Bacrot, Severine
Troilo, Enzo
Tabet, Anne C
Rossi, Sabrina
Delezoïde, Anne L
Baldo, Demetrio
Leporrier, Nathalie
Maggi, Federico
Molin, Arnaud
Pilu, Gianluigi
Simoni, Giuseppe
Vialard, Francois
Grati, Francesca R
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title_full Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title_fullStr Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title_full_unstemmed Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title_short Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
title_sort prenatal phenotype of williams–beuren syndrome and of the reciprocal duplication syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184624/
https://www.ncbi.nlm.nih.gov/pubmed/25356238
http://dx.doi.org/10.1002/ccr3.48
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