Antley-Bixler Syndrome: Types 1 and 2

Antley-Bixler syndrome (ABS) is a rare congenital syndrome with different musculoskeletal, urogenital, and cardiac defects which was first reported in 1975 by Ray Antley and David Bixler (Antley and Bixler 1975). Initially, it was thought that the fibroblast growth factor receptor 2 (FGFR2) gene can cause ABS, while in 2004 a mutation in the electron donor enzyme P450 oxidoreductase (POR) gene was found as the relevant gene for urogenital defects (Flück et al. 2004). The prevalence of ABS needs to be determined, but about 150 cases were reported (Li et al. 2021). Also, the ABS is mostly being identified in the first years of life, although it can be found in adolescents or early adulthood (Fan et al. 2019).