Of the 37 cases with diagnostic genetic variants, the clinical phenotypes were correlated with genotypes in 33 cases (89.2%) with the highest matching ratio in skeletal diseases (20/33, 60.6%), such as FGFR3 in the case with short bones considering achondroplasia, FGFR2 in the case with turricephaly, brachy-syndactyly of hands and feet considering Apert syndrome, and COL1A1 or COL1A2 in the case with short and angulated bones considering osteogenesis imperfecta. This evidence concerns the gene COL1A1 and achondroplasia.