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
Description
Summary: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.
ISSN:2050-0904

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