Literature DB >> 8071977

Four cases of bladder exstrophy in two families.

E J Messelink1, D C Aronson, M Knuist, H A Heij, A Vos.   

Abstract

Bladder exstrophy is a rare congenital anomaly, caused by abnormal development of the cloacal membrane. To our knowledge, 18 familial patients with this malformation have been described. Two sets of familial cases with bladder exstrophy are reported here: two cousins and a mother and son and the published reports of the 18 familial cases among 682 index patients with bladder exstrophy are reviewed. Ultrasonography is advocated as the investigation of choice for early prenatal diagnosis.

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Year:  1994        PMID: 8071977      PMCID: PMC1049930          DOI: 10.1136/jmg.31.6.490

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  12 in total

1.  Types of exstrophy of urinary bladder and conmitant malformations; a report based on 82 cases.

Authors:  A C USON; J K LATTIMER; M M MELICOW
Journal:  Pediatrics       Date:  1959-05       Impact factor: 7.124

2.  Exstrophy of the bladder: report of 158 cases.

Authors:  C C HIGGINS
Journal:  Am Surg       Date:  1962-03       Impact factor: 0.688

3.  The role of the laboratory in the handling of epididymal sperm for assisted reproductive technologies.

Authors:  T Ord; E Marello; P Patrizio; J P Balmaceda; S J Silber; R H Asch
Journal:  Fertil Steril       Date:  1992-05       Impact factor: 7.329

4.  Sonographic findings in the prenatal diagnosis of bladder exstrophy.

Authors:  R Jaffe; A Schoenfeld; J Ovadia
Journal:  Am J Obstet Gynecol       Date:  1990-03       Impact factor: 8.661

5.  Exstrophy, epispadias, and cloacal and urogenital sinus abnormalities.

Authors:  R D Jeffs
Journal:  Pediatr Clin North Am       Date:  1987-10       Impact factor: 3.278

6.  Monozygotic twins discordant for exstrophy of the urinary bladder.

Authors:  M Bugge
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

7.  Exstrophy closure: a followup on 70 cases.

Authors:  J K Lattimer; M J Smith
Journal:  J Urol       Date:  1966-03       Impact factor: 7.450

8.  The obstetric and gynaecological complications of bladder exstrophy and epispadias.

Authors:  C R Blakeley; W G Mills
Journal:  Br J Obstet Gynaecol       Date:  1981-02

9.  A family study of bladder exstrophy.

Authors:  E Ives; R Coffey; C O Carter
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

10.  [Exstrophy of the bladder and pregnancy].

Authors:  G Body; J Lansac; Y Lanson; C Berger
Journal:  J Gynecol Obstet Biol Reprod (Paris)       Date:  1984
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  13 in total

Review 1.  Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

Authors:  Csaba Siffel; Adolfo Correa; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Sebastiano Bianca; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Lisa K Marengo; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anna Pierini; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Richard S Olney
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

Review 2.  [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

Authors:  M Ludwig; B Utsch; H Reutter
Journal:  Urologe A       Date:  2005-09       Impact factor: 0.639

3.  Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Authors:  Heiko Reutter; Markus Draaken; Tracie Pennimpede; Lars Wittler; Felix F Brockschmidt; Anne-Karolin Ebert; Enrika Bartels; Wolfgang Rösch; Thomas M Boemers; Karin Hirsch; Eberhard Schmiedeke; Christian Meesters; Tim Becker; Raimund Stein; Boris Utsch; Elisabeth Mangold; Agneta Nordenskjöld; Gillian Barker; Christina Clementsson Kockum; Nadine Zwink; Gundula Holmdahl; Göran Läckgren; Ekkehart Jenetzky; Wouter F J Feitz; Carlo Marcelis; Charlotte H W Wijers; Iris A L M Van Rooij; John P Gearhart; Bernhard G Herrmann; Michael Ludwig; Simeon A Boyadjiev; Markus M Nöthen; Manuel Mattheisen
Journal:  Hum Mol Genet       Date:  2014-05-22       Impact factor: 6.150

Review 4.  Bladder exstrophy and epispadias complex in sibling: case report and review of literature.

Authors:  Abdol-Mohammad Kajbafzadeh; Parvin Tajik; Seyedmehdi Payabvash; Shima Farzan; Amir Reza Solhpour
Journal:  Pediatr Surg Int       Date:  2006-08-01       Impact factor: 1.827

Review 5.  Exstrophic anomalies: recent advances and long-term outlook.

Authors:  J H Ngan; M E Mitchell
Journal:  Indian J Pediatr       Date:  1997 May-Jun       Impact factor: 1.967

Review 6.  Female bladder exstrophy.

Authors:  S J Crankson; S Ahmed
Journal:  Int Urogynecol J Pelvic Floor Dysfunct       Date:  1997

7.  Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.

Authors:  Heiko Reutter; Kim Keppler-Noreuil; Catherine E Keegan; Holger Thiele; Gen Yamada; Michael Ludwig
Journal:  Curr Genomics       Date:  2016-02       Impact factor: 2.236

Review 8.  The exstrophy-epispadias complex.

Authors:  Anne-Karoline Ebert; Heiko Reutter; Michael Ludwig; Wolfgang H Rösch
Journal:  Orphanet J Rare Dis       Date:  2009-10-30       Impact factor: 4.123

9.  Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Authors:  Markus Draaken; Michael Knapp; Tracie Pennimpede; Johanna M Schmidt; Anne-Karolin Ebert; Wolfgang Rösch; Raimund Stein; Boris Utsch; Karin Hirsch; Thomas M Boemers; Elisabeth Mangold; Stefanie Heilmann; Kerstin U Ludwig; Ekkehart Jenetzky; Nadine Zwink; Susanne Moebus; Bernhard G Herrmann; Manuel Mattheisen; Markus M Nöthen; Michael Ludwig; Heiko Reutter
Journal:  PLoS Genet       Date:  2015-03-12       Impact factor: 5.917

10.  Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.

Authors:  Georgia Pitsava; Marcia L Feldkamp; Nathan Pankratz; John Lane; Denise M Kay; Kristin M Conway; Gary M Shaw; Jennita Reefhuis; Mary M Jenkins; Lynn M Almli; Andrew F Olshan; Faith Pangilinan; Lawrence C Brody; Robert J Sicko; Charlotte A Hobbs; Mike Bamshad; Daniel McGoldrick; Deborah A Nickerson; Richard H Finnell; James Mullikin; Paul A Romitti; James L Mills
Journal:  Am J Med Genet A       Date:  2021-08-05       Impact factor: 2.578

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