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Another case of autosomal dominant exstrophy of the bladder
Author(s) -
Froster U. G.,
Heinritz W.,
Bennek J.,
Horn L. C.,
Faber R.
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.879
Subject(s) - bladder exstrophy , medicine , anatomy , gynecology
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. Copyright © 2004 John Wiley & Sons, Ltd.