Literature DB >> 7118560

Prune-belly syndrome: report of three siblings.

F Gaboardi, A Sterpa, E Thiebat, R Cornali, M Manfredi, C Bianchi, M A Giacomoni, L Bertagnoli.   

Abstract

The "Prune-Belly" syndrome is rare and sporadic. The authors describe three siblings of both sexes with the syndrome. Good results in two of the patients arouse new interest in surgery for this syndrome. The possibility of prenatal diagnosis is discussed.

Entities:  

Mesh：

Year:  1982        PMID： 7118560

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


  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.  Genetic basis of prune belly syndrome: screening for HNF1β gene.

Authors:  Candace F Granberg; Steven M Harrison; Daniel Dajusta; Shaohua Zhang; Sachin Hajarnis; Peter Igarashi; Linda A Baker
Journal:  J Urol       Date:  2011-11-23       Impact factor: 7.450

3.  Copy number variations in a population with prune belly syndrome.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
Journal:  Am J Med Genet A       Date:  2018-10-04       Impact factor: 2.802

4.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103
  4 in total

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