In case 7 (angular femoral deformity and ventricular septal defect), two compound heterozygous causative mutations in the POR gene were detected: c.1370G > A (p.Arg457His) and c.744C > G (p.Tyr248*), which were associated with the Antley-Bixler syndrome. This evidence concerns the gene POR and Antley-Bixler syndrome.