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Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" gene partial deletion.

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Deneufbourg, Charlotte [UCL] Duquenne, Armelle [UCL] Biard, Jean-Marc [UCL] Sznajer, Yves [UCL]

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  gene sequencing diagnostic for Wieacker-Wolff syndrome.

Document type Article de périodique (Journal article) – Compte-rendu
Access type Accès libre
Publication date 2021
Language Anglais
Journal information "Clinical case reports" - Vol. 9, no.9, p. e04718 (2021)
Peer reviewed yes
issn 2050-0904
Publication status Publié
Affiliations UCL - (SLuc) Centre de référence neuromusculaire
UCL - (SLuc) Service d'oto-rhino-laryngologie
UCL - SSS/IREC/SLUC - Pôle St.-Luc
UCL - (SLuc) Centre labio-palatin Albert de Coninck
UCL - (SLuc) Service d'obstétrique
Keywords Wieacker‐Wolff syndrome ; Xq11.2 deletion ; ZC4H2 gene ; arthrogryposis multiplex congenita
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Bibliographic reference Deneufbourg, Charlotte ; Duquenne, Armelle ; Biard, Jean-Marc ; Sznajer, Yves. Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" gene partial deletion.. In: Clinical case reports, Vol. 9, no.9, p. e04718 (2021)
Permanent URL http://hdl.handle.net/2078.1/261216