Exstrophy

OR = 4.2 Cl = 1.5,12), terminal transverse limb reduction (OR = 12 Cl = 3.5, 41), and limb constriction ring or skin scars (OR = 40 Cl = 11, 153). There were 13 different defects not previously described in the misoprostol-exposed cases, but only holoprosencephaly and bladder exstrophy significantly exceeded the expected number. 

Fig. 16.13. Complications after urethral surgery. Axial image obtained after retrograde distention of the urethra with saline solution shows a hair-bearing ectatic neourethra curved arrows) in a man with bladder exstrophy and urethral duplication corrected during childhood using a scrotal skin flap...

Absence of any visible bladder can reveal either cloa-cal or bladder exstrophy. In both malformations, which may present with omphalocele (Grignon and Dubois 1999), there is an open defect of the abdominal or perineal wall. Widening of the distance between pubic bone echoes can be shown by prenatal sonography. This finding (Fig. 6.1) can also be shown in epispadias, the third and less severe malformation in this spectrum. 

Cloacal malformation (Lebowitz 1997) exclusively occurs in the female phenotype and should not be confused with cloacal exstrophy. Cloacal malformation represents the most severe degree of imperforate anus (Hendren 1998). Prenatal diagnosis is difficult because a septated fluid-filled cavity can be mistaken for a normal bladder. However, echogenic... 

Fig. 6.1. AP radiograph of the pelvic cavity showing widening of the pubic symphysis in a girl with vesical exstrophy...

Epispadia is part of the heterogeneous exstrophy-epispadia complex. It may occur in males and females. Widening of the pubic symphysis is usually associated. Continence is variable in those patients, so imaging and urodynamic studies in these patients should be directed towards this handicap and the detection of associated anomalies. Duplication of the bulbous urethra is extremely rare. It may be complete or blind-ended, ventral or dorsal (Barbagli et al. 1996). Finally, megalourethra (Stephens and Fortune 1993) is an enlargement of the pendulous urethra with no evidence of distal obstruction. It... 

Epispadias 177 Male Epispadias 177 Female Epispadias 177 Classical Bladder Exstrophy 178 Urogenital Features 178 Musculoskeletal Features 178 Variants 178... 

Pseudoexstrophy of the Bladder 178 Covered Exstrophy of the Bladder 180 Superior Vesical Fissure 180 Inferior Vesical Fissure 180 Duplicate Exstrophy 180 Bladder Exstrophy with Normal Umbilicus and Normal Infraumbilical Wall 180 OEIS Complex 180 Cloacal Exstrophy (Vesicointestinal Fissure) 180 Urogenital and Intestinal Features 180 Musculoskeletal Features 180... 

The exstrophy-epispadias complex represents a spectrum of malformations ranging from epispadias to cloacal exstrophy (Wood 1990). The most common entities of this complex and their frequencies are listed in Table 9.1 (Duckett and Cladamone 1985). 

Historically, bladder exstrophy was first mentioned in 2000 BC. The earliest description was given in 1597 by Scheuke and Grafenberg, a complete one about 150 years later by Mowat in 1747. The term exstrophy was coined by Chaussier in 1780 (Kelly 1998). 

Table 9.1. Types and frequencies of epispadias-exstrophy complex...

Epispadias occurs in 1 in 117,000 of the population, with a 5 1 male predominance. The incidence of classical bladder exstrophy is reported to he between 1 in 10,000 and 1 in 50,000 births (Duffy 1996). There is a 3 1 male predominance. Variants of bladder exstrophy tend to occur more often in females than in males (Duckett and Cladamone 1985). 

The risk of occurrence is 400-500 times higher if one parent suffers from bladder exstrophy (Ben-Chaim et al. 1996 Duffy 1996). There is evidence that a slightly increased risk for bladder exstrophy or epispadias exists in children whose mothers are less than 20 years old (Ben-Chaim et al. 1996). In addition, a possible concordance of intrauterine exposure to diazepam and occurrence of omphalocele-exstrophy-imperforate anus-spina bifida (OEIS) complex has been published (Lizscano-Gil et al. 1995). Cloacal exstrophy has an incidence of about 1 200,000 births. For this malformation no sex predominance is reported (Duckett and Cladamone 1985). 

Bladder exstrophy is more common in boys. Variants of bladder exstrophy are more common in girls. There is no sex predominance in cloacal exstrophy. 

The urinary bladder can be visualized on prenatal ultrasound scans after 14-weeks of gestation (Ben-Chaim et al. 1996). Therefore, in the absence of the urinary bladder on prenatal ultrasound scans or if any of the other above-mentioned symptoms are present, the diagnosis of bladder exstrophy should be raised. 

Bladder exstrophy is an underdiagnosed condition on prenatal ultrasound scans. Absence of the urinary bladder is th e hallmark of bladder exstrophy on those scans. 

Bladder exstrophy is diagnosed prenatally in only 13% of cases according to Ben-Chaim et al. (1996). In a retrospective study on 43 prenatal ultrasound... 

A recently published immunohistochemical study revealed that specimens of exstrophied bladders reveal fewer myelinated nerve fibers than normal individuals (Mathews et al. 1999). Normally, the innervation of the detrusor determines its ability to contract. Since the exstrophied bladder does not store any urine during intrauterine development, there is no need for contractions and innervation, which may explain the above-mentioned difference in innervation (Mathews et al. 1999). Up to now it is unclear whether this finding can predict contractility of the former exstrophied bladder. 

The embryological defect producing the epispadias-exstrophy complex occurs about the 8th week of gestation. Immunohistochemical differenc es between exstrophied and normal bladders exist. 

Three different types can be differentiated bala-nitic, penile, and penopubic (or complete) epispadias. In balanitic and penile epispadias, continence is present and musculoskeletal deformities of bladder exstrophy are mild or absent. On the other hand, in penopubic or complete epispadias, the whole length of the penis is involved, and these patients are always incontinent to a certain degree. Usually the penis is short and stubby. In addition, this subtype reveals the musculoskeletal deformities of bladder exstrophy, but to a minor degree (Currarino et al. 1993). 

In patients with bladder exstrophy, associated anomalies of the upper urinary tract are infrequent (Currarino et al. 1993). After surgical correction VUR will be present in almost all cases of bladder exstrophy (Ben-Chaim et al. 1996). Figure 9.5 depicts the features of bladder exstrophy in a newborn boy. 

This malformation is a rare variant of classical bladder exstrophy. It is characterized by the pres-... 

Fig. 9.5. Photograph of a child with classic exstrophy the umbilicus is low set and the bladder is exstrophied (solid arrows). The penis is short, and the corpora cavernosa are separated by the epispadiac groove...

Fig. 9.4. Schematic urogenital findings in a male patient suffering from bladder exstrophy...

Fig. 9.6. Pelvic X-ray of a male baby with classic exstrophy split symphysis is present. The pubic and iliac bones are rotated outwards with an increase in the inter-triradiate distance...

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