Bladder exstrophy is a rare congenital anomaly, caused by abnormal dev
elopment of the cloacal membrane. To our knowledge, 18 familial patien
ts with this malformation have been described. Two sets of familial ca
ses with bladder exstrophy are reported here: two cousins and a mother
and son and the published. reports of the 18 familial cases among 682
index patients with bladder exstrophy are reviewed. Ultrasonography i
s advocated as the investigation of choice for early prenatal diagnosi
s.