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. The gene discussed is COL1A1; the disease is osteogenesis imperfecta.