CNV analysis in 169 patients with bladder exstrophy-epispadias complex

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Bladder 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...

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Bladder Exstrophy and Epispadias

Introduction Exstrophy and epispadias are part of a spectrum of anomalies characterised by exposure of part or all of the mucosa of the lower urinary tract (bladder and urethra) to the external environment through a defect in the anterior abdominal wall. At one end of this spectrum is cloacal exstrophy, which is the most complex of these anomalies. It is characterised by exposure of the bladder...

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The Exstrophy-epispadias complex

Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. Prevalence at birth for the whol...

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Modern 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...

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Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding.

Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary se-xual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation...

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ژورنال

عنوان ژورنال: BMC Medical Genetics

سال: 2016

ISSN: 1471-2350

DOI: 10.1186/s12881-016-0299-x