A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST

Puntos clave

• Stüve-Wiedemann syndrome manifests due to a novel variant in the IL6ST gene, affecting fetal development.
• The identified homozygous truncating variant is hypothesized to disrupt normal biological functions early in fetal growth.
• Assessment involved genetic testing and analysis to pinpoint the specific mutation responsible for the syndrome.
• Further understanding of this variant may enable targeted genetic counseling and improved prenatal care for affected families.