In 2020, Errichiello et al. reported a SCD fetus with severe kyphoscoliosis involving the entire spine and segmentation abnormalities (hemivertebrae) accompanied by asymmetric rib defects, who harbored a homozygous TBX6 stop-gained variant [NM_004608.3:c.1148 C > A, p.(Ser383Ter)] [17]. The gene discussed is TBX6; the disease is Kyphoscoliosis.