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.
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.
Authors: Georgia Pitsava; Marcia L Feldkamp; Nathan Pankratz; John Lane; Denise M Kay; Kristin M Conway; Gary M Shaw; Jennita Reefhuis; Mary M Jenkins; Lynn M Almli; Andrew F Olshan; Faith Pangilinan; Lawrence C Brody; Robert J Sicko; Charlotte A Hobbs; Mike Bamshad; Daniel McGoldrick; Deborah A Nickerson; Richard H Finnell; James Mullikin; Paul A Romitti; James L Mills Journal: Am J Med Genet A Date: 2021-08-05 Impact factor: 2.578