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Prune Belly Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1895, Parker described the congenital triad of deficient abdominal musculature, cryptorchidism, and urinary tract abnormalities. Subsequently, the term “prune belly syndrome” was coined for this condition based on the characteristic wrinkled appearance of the abdomen. The incidence of the syndrome is estimated to be 1 in 35,000 to 1 in 50,000 live births.

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References

  • Amacker, E. A., Grass, F. S., Hickey, D. E., et al. (1986). An association of prune belly anomaly with trisomy 21. American Journal of Medical Genetics, 23, 919–923.

    Article  CAS  PubMed  Google Scholar 

  • Beckman, H., Rehder, H., & Rauskolb, R. (1984). Prune belly sequence associated with trisomy 13. American Journal of Medical Genetics, 19, 603–604.

    Article  Google Scholar 

  • Burton, B. K., & Dillerd, R. G. (1984). Prune belly syndrome: Observation supporting the hypothesis of abdominal over distention. American Journal of Medical Genetics, 17, 669–672.

    Article  CAS  PubMed  Google Scholar 

  • Chen, L., Cai, A., Wang, X., et al. (2010). Two- and three-dimensional prenatal sonographic diagnosis of prune-belly syndrome. Journal of Clinical Ultrasound, 38, 279–282.

    PubMed  Google Scholar 

  • Christopher, C. R., Spinelli, A., & Severt, D. (1982). Ultrasonic diagnosis of prune-belly syndrome. Obstetrics and Gynecology, 59, 391–394.

    CAS  PubMed  Google Scholar 

  • Cooperberg, P. L., Romalis, G., & Wright, V. (1979). Megacystis (prune-belly syndrome): Sonographic demonstration in utero. Journal of the Canadian Association of Radiologists, 30, 120–121.

    CAS  PubMed  Google Scholar 

  • Eagle, J. F., & Barret, G. S. (1950). Congenital deficiency of abdominal musculature with associated genitourinary anomalies: A syndrome. Report of 9 cases. Pediatrics, 6, 721–736.

    PubMed  Google Scholar 

  • Freedman, A. L., Bukowski, T. P., Smith, C. A., et al. (1996). Fetal therapy for obstructive uropathy: Specific outcomes diagnosis. Journal of Urology, 156, 720–724.

    Article  CAS  PubMed  Google Scholar 

  • Frydman, M., Magenis, R. E., Mohandas, T. K., et al. (1983). Chromosome abnormalities in infants with prune belly anomaly: Association with trisomy 18. American Journal of Medical Genetics, 15, 145–148.

    Article  CAS  PubMed  Google Scholar 

  • Genest, D. R., Driscoll, S. G., & Bieber, F. R. (1991). Complexities of limb anomalies: The lower extremity in the “prune belly” phenotype. Teratology, 44, 365–371.

    Article  CAS  PubMed  Google Scholar 

  • Granberg, C. F., Harrison, S. M., Dajusta, D., et al. (2012). Genetic basis of prune belly syndrome: Screening for HNF1β gene. The Journal of Urology, 187, 272–278.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Green, N. E., Lowery, E. R., & Thomas, R. (1993). Orthopaedic aspects of prune belly syndrome. Journal of Pediatric Orthopedics, 13, 496–501.

    Article  CAS  PubMed  Google Scholar 

  • Guillen, D. R., Lowichik, A., Schneider, N. R., et al. (1997). Prune belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. American Journal of Medical Genetics, 70, 32–36.

    Article  CAS  PubMed  Google Scholar 

  • Harley, L. M., Chen, Y., & Rattner, W. H. (1972). Prune belly syndrome. Journal of Urology, 108, 174–176.

    CAS  PubMed  Google Scholar 

  • Hassett, S., Smith, G. H. H., & Holland, A. J. A. (2012). Prune belly syndrome. Pediatric Surgery International, 28, 219–228.

    Article  CAS  PubMed  Google Scholar 

  • Herman, T. E., & Siegel, M. J. (2009). Prune belly syndrome [Imaging Case Book]. Journal of Perinatology, 29, 69–71.

    Article  CAS  PubMed  Google Scholar 

  • Hoagland, M. H., Frank, K. A., & Hutchins, G. M. (1988). Prune-belly syndrome with prostatic hypoplasia, bladder wall rupture, and massive ascites in a fetus with trisomy 18. Archives of Pathology & Laboratory Medicine, 112, 1126–1128.

    CAS  Google Scholar 

  • Ives, E. J. (1974). The abdominal muscle deficiency triad syndrome-experience with ten cases. Birth Defects Original Article Series, 10, 127–135.

    CAS  PubMed  Google Scholar 

  • Lattimer, J. K. (1958). Congenital deficiency of abdominal musculature and associated genitourinary anomalies. Journal of Urology, 79, 343–352.

    CAS  PubMed  Google Scholar 

  • Leeners, B., Sauer, I., Schefels, J., et al. (2000). Prune-belly syndrome: Therapeutic options including in utero placement of a vesicoamniotic shunt. Journal of Clinical Ultrasound, 28, 500–507.

    Article  CAS  PubMed  Google Scholar 

  • Lubinsky, M., Doyle, K., & Trunca, C. (1980). The association of “prune-belly” with Turner’s syndrome. American Journal of Diseases of Children, 134, 1171–1172.

    CAS  PubMed  Google Scholar 

  • Moerman, P., Fryns, J. P., & Goddeeris, P. (1984a). Prune belly syndrome, a secondary urethral functional obstruction due to prostatic hypoplasia. Journal de Génétique Humaine, 32, 141–143.

    CAS  PubMed  Google Scholar 

  • Moerman, P., Fryns, J.-P., Goddeeris, P., et al. (1984b). Pathogenesis of the prune-belly syndrome: A functional urethral obstruction caused by prostatic hypoplasia. Pediatrics, 73, 470–475.

    CAS  PubMed  Google Scholar 

  • Monie, I. W., & Monie, B. J. (1979). Prune belly syndrome and fetal ascites. Teratology, 19, 111–117.

    Article  CAS  PubMed  Google Scholar 

  • Mouriquand, P. D. E., Whitten, M., & Pracros, J.-P. (2001). Pathophysiology, diagnosis and management of prenatal upper tract dilatation. Prenatal Diagnosis, 21, 942–951.

    Article  CAS  PubMed  Google Scholar 

  • Nunn, I. N., & Stephens, F. D. (1961). The triad syndrome: A composite anomaly of the abdominal wall, urinary system, and testes. Journal of Urology, 86, 782–784.

    CAS  PubMed  Google Scholar 

  • Pagon, R. A., Smith, D. W., & Shepard, T. H. (1979). Urethral obstruction malformation complex: A cause of abdominal muscle deficiency and the “prune belly”. Journal of Pediatrics, 94, 900–906.

    Article  CAS  PubMed  Google Scholar 

  • Parker, R. W. (1895). Absence of abdominal muscles in an infant-extensive degenerating nevus of bladder-gastric ulcer treated by laparotomy. Lancet, 1, 1252–1254.

    Google Scholar 

  • Pramanik, A. K., Altshuler, G., Light, I. J., et al. (1977). Prune-belly syndrome associated with Potter (renal nonfunction) syndrome. American Journal of Diseases of Children, 131, 672–674.

    CAS  PubMed  Google Scholar 

  • Qazi, Q. H., Kaufman, S., Sher, J., et al. (1978). Chromosomal anomaly in prune belly syndrome. Human Genetics, 20, 265–267.

    Google Scholar 

  • Richer, J., Milewicz, D. M., Gow, R., et al. (2012). R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. American Journal of Medical Genetics. Part A, 158A, 664–668.

    Article  CAS  PubMed  Google Scholar 

  • Rogers, L. W., & Ostrow, P. T. (1973). The prune belly syndrome. Report of 20 cases and description of a lethal variant. Journal of Pediatrics, 83, 786–793.

    Article  CAS  PubMed  Google Scholar 

  • Scarbrough, P. R., Files, B., Carroll, A. J., et al. (1988). Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence. Prenatal Diagnosis, 8, 169–174.

    Article  CAS  PubMed  Google Scholar 

  • Seidel, N. E., Arlen, A. M., Smith, E. A., et al. (2015). Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. Urology, 85, 211–215.

    Article  PubMed  Google Scholar 

  • Stevenson, R. E., Schroer, R. J., Collins, J., et al. (1987). Fetal ascites: The underlying cause for prune belly. Proceedings of the Greenwood Genetic Center, 6, 16–21.

    Google Scholar 

  • Stranb, E., & Spranger, J. (1981). Etiology and pathogenesis of the prune belly syndrome. Kidney International, 20, 695–699.

    Article  Google Scholar 

  • Tuch, B. A., & Smith, T. K. (1978). Prune-belly syndrome. A report of twelve cases and review of the literature. Journal of Bone and Joint Surgery, 60A, 109–111.

    Google Scholar 

  • Welch, K. J., & Kearney, G. P. (1974). Abdominal musculature deficiency syndrome: Prune belly. Journal of Urology, 111, 693–700.

    CAS  PubMed  Google Scholar 

  • Woodhouse, C. R., Ransley, P. G., & Innes-Williams, D. (1982). Prune belly syndrome-report of 47 cases. Archives of Disease in Childhood, 57, 856–859.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Woods, A. G., & Brandon, D. H. (2007). Prune belly syndrome. A focused physical assessment. Advances in Neonatal Care, 7, 132–143.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Department of Pediatrics, Perinatal and Clinical Genetics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2015). Prune Belly Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_198-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_198-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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