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.

Keywords: Wieacker‐Wolff syndrome; Xq11.2 deletion; ZC4H2 gene; arthrogryposis multiplex congenita.