Another case of autosomal dominant exstrophy of the bladder.
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.


CONCLUSIONS
The present case may be additional evidence for an autosomal dominant inherited variant of this malformation complex with implication for counselling of affected patients.
Froster
U G
UG
Institute of Human Genetics, University of Leipzig, Leipzig, Germany. frou@medizin.uni-leipzig.de
Heinritz
W
W
Bennek
J
J
Horn
L C
LC
Faber
R
R
D000028:Abortion, Induced; D000328:Adult; D001746:Bladder Exstrophy / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography