Abstract
The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.
Highlights
Congenital anomalies of the lower urinary tract (CALUT) are a group of birth defects of the ureter, bladder, and urethra, which includes bladder exstrophy–epispadias complex (BEEC, MIM #600057)
BEEC is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine [1]
The severity of BEEC ranges from epispadias (E), representing the mildest form to include classic bladder exstrophy (CBE), and extending to cloacal exstrophy (CE), the latter complex—previously referred to as OEIS—being the most severe [1,2]
Summary
Congenital anomalies of the lower urinary tract (CALUT) are a group of birth defects of the ureter, bladder, and urethra, which includes bladder exstrophy–epispadias complex (BEEC, MIM #600057). BEEC is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine [1]. The severity of BEEC ranges from epispadias (E), representing the mildest form to include classic bladder exstrophy (CBE), and extending to cloacal exstrophy (CE), the latter complex—previously referred to as OEIS (omphalocele, exstrophy, imperforate anus, and spinal defects)—being the most severe [1,2]. In the majority of cases, BEEC is non-syndromic (that is, it is not associated with other congenital birth malformations). The etiology of this malformation is still unknown. Theories have proposed an abnormal overdevelopment of the cloacal membrane preventing medial migration of mesenchyme between the ectodermal and endodermal layers of the lower abdominal wall, resulting in abnormal development of the lower abdominal wall [4] or the involvement of cloacal membrane and mesenchymal tissues during their defective embryogenesis [5,6]
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