Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.

Detalles Bibliográficos
Autores principales: Deneufbourg, Charlotte, Duquenne, Armelle, Biard, Jean‐Marc, Sznajer, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405424/
https://www.ncbi.nlm.nih.gov/pubmed/34484757
http://dx.doi.org/10.1002/ccr3.4718
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author Deneufbourg, Charlotte
Duquenne, Armelle
Biard, Jean‐Marc
Sznajer, Yves
author_facet Deneufbourg, Charlotte
Duquenne, Armelle
Biard, Jean‐Marc
Sznajer, Yves
author_sort Deneufbourg, Charlotte
collection PubMed
description Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.
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spelling pubmed-84054242021-09-03 Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion Deneufbourg, Charlotte Duquenne, Armelle Biard, Jean‐Marc Sznajer, Yves Clin Case Rep Case Report Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome. John Wiley and Sons Inc. 2021-08-30 /pmc/articles/PMC8405424/ /pubmed/34484757 http://dx.doi.org/10.1002/ccr3.4718 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) 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 Report
Deneufbourg, Charlotte
Duquenne, Armelle
Biard, Jean‐Marc
Sznajer, Yves
Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title_full Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title_fullStr Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title_full_unstemmed Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title_short Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
title_sort wieacker‐wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” zc4h2 gene partial deletion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405424/
https://www.ncbi.nlm.nih.gov/pubmed/34484757
http://dx.doi.org/10.1002/ccr3.4718
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