The second POC sample (case 1.4.2) revealed a novel pathogenic homozygous variant c.867_877del causing protein truncation p.Gln289HisfsTer2 in CUL7 gene causative of 3 M syndrome, which has a phenotype of severe prenatal and postnatal growth retardation, long, slender tubular bones, reduced antero-posterior diameter of the vertebral bodies and delayed bone age [14]. The gene discussed is CUL7; the disease is 3-M syndrome.