In patient 13, the fetus was found with thoracic HV and short limb long bone (<−3SD) and identified with a de novo heterozygous variant in the EBP gene, NM_006579.2, c.328C > T (p. Arg110Ter) with AD mode, which could result in X-linked dominant chondrodysplasia punctata and MEND syndrome (OMIM: 302960, 300960). The gene discussed is EBP; the disease is MEND syndrome.