Another case of autosomal dominant exstrophy of the bladder

Abstract

Objective: Exstrophy of the bladder is a rare malformation due to an anterior midline defect. Most cases of this condition with variable expression occur sporadically, but there are some cases indicative of a strong genetic component apart from environmental factors. This is a report about another rare mother-child pair with bladder exstrophy.

Methods: We present the clinical data of a familial case of bladder exstrophy with an affected mother and her equally affected male fetus.

Results: Prenatal diagnosis of bladder exstrophy in the fetus was assessed by ultrasound at the 19th gestational week and was confirmed after termination of pregnancy at the 21st gestational week.

Conclusion: The present case may be additional evidence for an autosomal dominant inherited variant of this malformation complex with implication for counselling of affected patients.