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

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

Abstract 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.

Bibliographic Details
Main Authors: Charlotte Deneufbourg, Armelle Duquenne, Jean‐Marc Biard, Yves Sznajer
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Clinical Case Reports
Subjects:
arthrogryposis multiplex congenita
Wieacker‐Wolff syndrome
Xq11.2 deletion
ZC4H2 gene
Online Access:https://doi.org/10.1002/ccr3.4718
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spelling doaj-b879edc6c4ec4c589997c2eac7ba02ed2021-09-27T07:16:15ZengWileyClinical Case Reports2050-09042021-09-0199n/an/a10.1002/ccr3.4718Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletionCharlotte Deneufbourg0Armelle Duquenne1Jean‐Marc Biard2Yves Sznajer3Center for Human Genetics Cliniques Universitaires Saint‐LucUCLouvain Brussels BelgiumCenter for Human Genetics Cliniques Universitaires Saint‐LucUCLouvain Brussels BelgiumFetal Medicine Unit, Obstetric Cliniques Universitaires Saint‐LucUCLouvain Brussels BelgiumCenter for Human Genetics Cliniques Universitaires Saint‐LucUCLouvain Brussels BelgiumAbstract 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.https://doi.org/10.1002/ccr3.4718arthrogryposis multiplex congenitaWieacker‐Wolff syndromeXq11.2 deletionZC4H2 gene
collection DOAJ
language English
format Article
sources DOAJ
author Charlotte Deneufbourg
Armelle Duquenne
Jean‐Marc Biard
Yves Sznajer
spellingShingle Charlotte Deneufbourg
Armelle Duquenne
Jean‐Marc Biard
Yves Sznajer
Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” ZC4H2 gene partial deletion
Clinical Case Reports
arthrogryposis multiplex congenita
Wieacker‐Wolff syndrome
Xq11.2 deletion
ZC4H2 gene
author_facet Charlotte Deneufbourg
Armelle Duquenne
Jean‐Marc Biard
Yves Sznajer
author_sort Charlotte Deneufbourg
title 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_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_sort wieacker‐wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” zc4h2 gene partial deletion
publisher Wiley
series Clinical Case Reports
issn 2050-0904
publishDate 2021-09-01
description Abstract 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.
topic arthrogryposis multiplex congenita
Wieacker‐Wolff syndrome
Xq11.2 deletion
ZC4H2 gene
url https://doi.org/10.1002/ccr3.4718
work_keys_str_mv AT charlottedeneufbourg wieackerwolffsyndromeadistinctivephenotypeofarthrogryposismultiplexcongenitacausedbyadenovozc4h2genepartialdeletion
AT armelleduquenne wieackerwolffsyndromeadistinctivephenotypeofarthrogryposismultiplexcongenitacausedbyadenovozc4h2genepartialdeletion
AT jeanmarcbiard wieackerwolffsyndromeadistinctivephenotypeofarthrogryposismultiplexcongenitacausedbyadenovozc4h2genepartialdeletion
AT yvessznajer wieackerwolffsyndromeadistinctivephenotypeofarthrogryposismultiplexcongenitacausedbyadenovozc4h2genepartialdeletion
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