Objective: To analyze the clinical manifestations of a patient with Okihiro syndrome/Duane-radial ray syndrome (DRRS) and his family and to carry out genetic testing in order to specify the biological pathogenesis. Methods: Clinical data of the patient and his family were collected. Genomic DNA in the peripheral blood of the proband and his family members was extracted. whole exome were sequenced by high-throughput sequencing, and the mutation sites of the proband and his parents were validated by Sanger sequencing. Results: The patient was diagnosed with Okihiro syndrome that characterized by abnormalities of bones in the arms and hands (radial ray malformations, absence of thumbs) and sensorineural hearing loss. A pathogenic heterozygous c.3060delG variant has been identified in exon 4 of the SALL4 gene in the proband by whole exome sequencing (WES), which is a frameshift mutation that changed the amino acid sequence of the SALL4 protein from 1053 to 1076 . This variant resulted in a longer SALL4 protein. The variant was a de novo mutation, as the parents of the proband showed no variation at this site. This variant has not been included in the database and has not been reported in the literature. Conclusion: The de novo heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in this study. The variant detected in this case expanded the database of SALL4 variants.