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

Deneufbourg, Charlotte;Duquenne, Armelle;Biard, Jean-Marc;Sznajer, Yves
(2021) Clinical Case Reports — Vol. 9, n° 9, p. e04718 (2021)

Files

CCR3-9-e04718.pdf
  • Open Access
  • Adobe PDF
  • 312.51 KB

Details

Authors
  • Deneufbourg, CharlotteUCLouvain
    Author
  • Duquenne, ArmelleUCLouvain
    Author
  • Biard, Jean-MarcUCLouvain
    Author
  • Sznajer, YvesUCLouvain
    Author
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  gene sequencing diagnostic for Wieacker-Wolff syndrome.
Affiliations

Citations

Deneufbourg, C., Duquenne, A., Biard, J.-M., & Sznajer, Y. (2021). Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a “de novo” gene partial deletion. Clinical Case Reports, 9(9), e04718. https://doi.org/10.1002/ccr3.4718 (Original work published 2021)