Literature DB >> 21034928

Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant.

Stefano Giuliani1, Christopher Vendryes, Ajay Malhotra, Donald B Shaul, Dean M Anselmo.   

Abstract

Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts. Published by Elsevier Inc.

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Year:  2010        PMID: 21034928     DOI: 10.1016/j.jpedsurg.2010.07.054

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  4 in total

1.  Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Authors:  Stefanie Weber; Holger Thiele; Sevgi Mir; Mohammad Reza Toliat; Betül Sozeri; Heiko Reutter; Markus Draaken; Michael Ludwig; Janine Altmüller; Peter Frommolt; Helen M Stuart; Parisa Ranjzad; Neil A Hanley; Rachel Jennings; William G Newman; Duncan T Wilcox; Uwe Thiel; Karl Peter Schlingmann; Rolf Beetz; Peter F Hoyer; Martin Konrad; Franz Schaefer; Peter Nürnberg; Adrian S Woolf
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

2.  Megacystis microcolon intestinal hypoperistalsis syndrome.

Authors:  Mehran Hiradfar; Reza Shojaeian; Paria Dehghanian; Sara Hajian
Journal:  BMJ Case Rep       Date:  2013-05-31

3.  Clear cell adenocarcinoma of the bladder with intravesical cervical invasion.

Authors:  Daniel Marchalik; Jayashree Krishnan; Mohan Verghese; Krishnan Venkatesan
Journal:  BMJ Case Rep       Date:  2015-06-24

4.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917

  4 in total

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