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Another case of autosomal dominant exstrophy of the bladder
U G Froster1, W Heinritz, J Bennek
1Institute of Human Genetics, University of Leipzig, Leipzig, Germany. frou@medizin.uni-leipzig.de
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.
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