Case 1.4.5 revealed heterozygosity in both partners for likely pathogenic variant in RBBP8 causative of Seckel Syndrome 2 (OMIM # 606744), whereas case 1.4.6 revealed both parents to be heterozygous carriers for a VUS in COL11A2 associated with fibrochondrogenesis 2 (OMIM # 614524). This evidence concerns the gene RBBP8 and Seckel syndrome 2.