Recently, Arts et al. [29] reported two stillbirth siblings of both chromosomal sexes presenting with the most severe sides of PBX1-linked developmental diseases: CAKUTHED, diaphragmatic eventration, lung hypoplasia, and sex reversal in the 46,XY fetus. This evidence concerns the gene PBX1 and congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.