Musculoskeletal Aspects of Prune-Belly Syndrome

Loder, Randall T.; Guiboux, Jean Paul; Bloom, David A.; Hensinger, Robert N.

doi:10.1001/archpedi.1992.02160220110034

Cited by 39 publications

(23 citation statements)

References 48 publications

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“…Cortical thinning improved significantly in both cases of nonrefluxing, nonobstructive megacystis-megaureter, in one instance by the third trimester and in the other postnatally. Although musculoskeletal abnormalities have been described in 45% of patients with PBS, 20 this was not a distinguishing feature in our study. PBS can also be associated with trisomies 13, 18, and 21; 45,X karyotype; malrotation; and cardiac anomalies.…”

Section: Discussioncontrasting

confidence: 65%

Bladder distention and pyelectasis in the male fetus: causes, comparisons, and contrasts.

Montemarano

Bulas

Rushton

et al. 1998

Journal of Ultrasound in Medicine

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The objective of this paper was to determine if prenatal sonographic findings can accurately differentiate between the causes of bladder distention and pyelectasis in the male fetus. Twenty‐one cases were evaluated for the presence of oligohydramnios, posterior urethral dilation, bladder wall thickening, urachal patency, cortical thinning, cortical cysts, and increased renal echogenicity. Postnatal diagnosis included posterior urethral valves (10 cases), prune belly syndrome (four cases), vesicoureteral reflux (four cases), left ureterovesical junction obstruction (one case), and nonrefluxing, nonobstructive megacystis‐megaureter (two cases). Oligohydramnios was present in eight of 10 cases of posterior urethral valves and in one of four cases of prune belly syndrome. A dilated posterior urethra was noted in seven of 10 cases of posterior urethral valves and transiently in two of four cases of prune belly syndrome. Bladder wall thickening developed in all cases of posterior urethral valves and was noted in two of four patients with prune belly syndrome. A patent urachus likewise was identified in two of four cases of prune belly syndrome. The presence of oligohydramnios, progressive bladder wall thickening, and dilated posterior urethra was most suggestive of posterior urethral valves, whereas the presence of a patent urachus was most suggestive of prune belly syndrome. The presence of pyelectasis and megacystis without additional amniotic fluid, bladder, urethral, or renal abnormalities was most suggestive of vesicoureteral reflux, ureterovesical junction obstruction, or nonrefluxing, nonobstructive megacystis‐megaureter. Owing to the overlap and evolution of these findings, close follow‐up evaluation is recommended.

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Section: Discussioncontrasting

confidence: 65%

Bladder distention and pyelectasis in the male fetus: causes, comparisons, and contrasts.

Montemarano

Bulas

Rushton

et al. 1998

Journal of Ultrasound in Medicine

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“…There is  G. Tonni et al no consensus as to the etiology and pathogenesis of this syndrome, but two theories predominate. The first suggests that the severe bladder outlet obstruction existed early in gestation, is believed to be secondary to an obstruction caused by urethral atresia and stenosis of the posterior urethral valves [6]. The second suggests that abdominal muscle deficiency could be due to a defect in the migration of the lateral mesoblast between weeks 6 and 7 of pregnancy [7,8] or to a purely mechanical distention of the abdominal wall in response to the presence of the megalocystic [9].…”

Section: Definition Etiology Epidemiologymentioning

confidence: 99%

“…Prune-belly syndrome may be associated with chromosomal abnormalities [16][17][18][19][20][21][22][23]. An autosomal dominant mode of inheritance has been suggested by others; however, male predominance, lack of consanguinity, and lack of extensive pedigrees in new cases (the result of associated infertility) make any association with single gene inheritance uncertain at this time [6]. Alpha 1-antitrypsin deficiency may be an etiologic factor in causing PBS [24].…”

Section: Genetic Factorsmentioning

confidence: 99%

Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis

Tonni

Vito

Ventura

et al. 2012

Fetal and Pediatric Pathology

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Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

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“…Anomalies of the prostate gland are frequent, but it is unclear if they are primary or secondary (Moerman et al, 1984;Hoagland et al, 1988;Popek et al, 1991). Some workers have suggested a primary mesodermal defect affecting both abdominal muscles and urinary system (Ikeda and Stoesser, 1927;Silverman and Huang, 1950;Loder et al, 1992;Pauli, 1994). Because abdominal muscle deficiency and urinary anomalies can occur independently, the argument for primacy in either instance is weakened (Chan and Bird, 2004).…”

Section: Introductionmentioning

confidence: 99%