Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology.
نویسندگان
چکیده
Heiko Reutter,* Lihong Qi, John P. Gearhart, Thomas Boemers, Anne-Karoline Ebert, Wolfgang Rösch, Michael Ludwig, and Simeon A. Boyadjiev Department of Human Genetics, University of Bonn, Bonn, Germany Rowe Program in Human Genetics, Department of Public Health Sciences, University of California—Davis, Davis, California Department of Urology, The Johns Hopkins Hospital, Baltimore, Maryland Department of Pediatric Surgery and Pediatric Urology, Children’s Hospital, Cologne, Germany Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, Germany Department of Clinical Biochemistry, University of Bonn, Bonn, Germany Section of Genetics, Department of Pediatrics, University of California—Davis, Davis, California
منابع مشابه
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes
The Bladder-Exstrophy-Epispadias Complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and has a profound impact on continence, and on sexual and renal function. While previous reports of familial occurrence, in-creased recurrence among first-degree relatives, high concordance rates among monozygotic twins, and chromosomal aberra-tions were suggestive of causative ge...
متن کاملBladder exstrophy-epispadias complex.
The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the curre...
متن کاملModern Management of the Exstrophy-Epispadias Complex
The exstrophy-epispadias complex is a rare spectrum of malformations affecting the genitourinary system, anterior abdominal wall, and pelvis. Historically, surgical outcomes were poor in patients with classic bladder exstrophy and cloacal exstrophy, the two more severe presentations. However, modern techniques to repair epispadias, classic bladder exstrophy, and cloacal exstrophy have increased...
متن کاملClinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families.
OBJECTIVE To identify genetic and nongenetic factors contributing to the risk of bladder exstrophy-epispadias complex (BEEC). PATIENTS AND METHODS In all, 285 families with BEEC were invited to participate in the study, and 232 of them were recruited. Epidemiological information was obtained from 151 of the consenting families, with a detailed clinical genetic examination of 94 probands. In a...
متن کاملManagement of epispadias.
Although epispadias is considered to be the least severe defect of the exstrophy-epispadias complex, the treatment of this anomaly is far from trivial. Epispadias does not involve the body of the bladder or the hindgut but does affect the urethra and can affect the bladder neck. As a consequence, it presents with a spectrum of severity that can affect urinary continence if the epispadias anomal...
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عنوان ژورنال:
- American journal of medical genetics. Part A
دوره 143A 22 شماره
صفحات -
تاریخ انتشار 2007