Literature DB >> 20809116

Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature.

Polina Frolov1, Jasem Alali, Michael D Klein.   

Abstract

Gastroschisis and omphalocele are usually considered together since they are both congenital abdominal wall defects, and yet their anatomy, embryogenesis, and clinical presentation and problems are quite different. In addition, it appears that the risk factors for their occurrence differ. Etiologic factors contributing to the development of these defects are unknown. To investigate this we have reviewed reports of risk factors for each anomaly and report them here. We conducted a literature search using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) for risk factors implicated in the development of gastroschisis and omphalocele. The data reviewed here from clinical studies in the literature, closely parallels the data in animal studies which we reported earlier. There is little evidence for a genetic cause in the development of gastroschisis and much evidence supporting the possibility that environmental teratogens are important contributors to the development of this defect. On the other hand, in the case of omphalocele, there was little evidence for environmental factors and substantial data indicating that genetic or familial factors may play an important role.

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Year:  2010        PMID: 20809116     DOI: 10.1007/s00383-010-2701-7

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN: 0179-0358            Impact factor:   1.827


  128 in total

1.  Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

Authors:  A M Norman; A P Read; J Clayton-Smith; T Andrews; D Donnai
Journal:  Am J Med Genet       Date:  1992-02-15

Review 2.  Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research.

Authors:  Marcia L Feldkamp; John C Carey; Thomas W Sadler
Journal:  Am J Med Genet A       Date:  2007-04-01       Impact factor: 2.802

3.  Animal models of ventral body wall closure defects: a personal perspective on gastroschisis.

Authors:  Trevor Williams
Journal:  Am J Med Genet C Semin Med Genet       Date:  2008-08-15       Impact factor: 3.908

4.  Genetic factors in the aetiology of gastroschisis: a case report.

Authors:  A Reece; J Thornton; M D Stringer
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  1997-06       Impact factor: 2.435

5.  Congenital anterior abdominal wall defects in England and Wales 1987-93: retrospective analysis of OPCS data.

Authors:  K H Tan; M D Kilby; M J Whittle; B R Beattie; I W Booth; B J Botting
Journal:  BMJ       Date:  1996-10-12

6.  Omphalocele and related defects.

Authors:  A H Johnson
Journal:  Am J Surg       Date:  1967-08       Impact factor: 2.565

7.  Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Authors:  W W Lam; I Hatada; S Ohishi; T Mukai; J A Joyce; T R Cole; D Donnai; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

8.  Folate-related genes and omphalocele.

Authors:  James L Mills; Charlotte M Druschel; Faith Pangilinan; Kenneth Pass; Christopher Cox; Rebecca R Seltzer; Mary R Conley; Lawrence C Brody
Journal:  Am J Med Genet A       Date:  2005-07-01       Impact factor: 2.802

9.  Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study.

Authors:  Mark A Canfield; Julianne S Collins; Lorenzo D Botto; Laura J Williams; Cara T Mai; Russell S Kirby; Kay Pearson; Owen Devine; Joe Mulinare
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2005-10

10.  Congenital malformations associated with anencephaly in liveborn and stillborn infants.

Authors:  A D Sadovnick; P A Baird
Journal:  Teratology       Date:  1985-12
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  20 in total

1.  Maternal residential atrazine exposure and gastroschisis by maternal age.

Authors:  A J Agopian; Peter H Langlois; Yi Cai; Mark A Canfield; Philip J Lupo
Journal:  Matern Child Health J       Date:  2013-12

2.  Possible etiologies of increased incidence of gastroschisis.

Authors:  Christina Souther; Devin P Puapong; Russell Woo; Sidney M Johnson
Journal:  Pediatr Surg Int       Date:  2017-09-26       Impact factor: 1.827

3.  Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Authors:  Maria Francesca Bedeschi; Mariarosaria Calvello; Leda Paganini; Lidia Pezzani; Marco Baccarin; Laura Fontana; Silvia M Sirchia; Silvana Guerneri; Lorena Canazza; Ernesto Leva; Lorenzo Colombo; Faustina Lalatta; Fabio Mosca; Silvia Tabano; Monica Miozzo
Journal:  BMC Med Genet       Date:  2017-10-18       Impact factor: 2.103

4.  The Effects of Parent Ages on Birth Defects.

Authors:  James A Thompson
Journal:  Acta Sci Paediatr       Date:  2020-09-29

5.  A Rare Case of Left-Sided Gastroschisis in a Human Museum Specimen.

Authors:  Gyanaranjan Nayak; Niranjan Sahoo; Sujita Pradhan; Gyanraj Singh; Sitansu K Panda
Journal:  Cureus       Date:  2022-09-09

Review 6.  Bovine omphalocele: errors in embryonic development, veterinarian importance, and the way forward.

Authors:  Ratchadaporn Boripun; Pawinee Kulnanan; Noppason Pangprasit; C Norman Scholfield; Jureerat Sumretprasong
Journal:  Vet Res Commun       Date:  2022-09-15       Impact factor: 2.816

Review 7.  Genetic dissection of ventral folding morphogenesis in mouse: embryonic visceral endoderm-supplied BMP2 positions head and heart.

Authors:  Svetlana Gavrilov; Elizabeth Lacy
Journal:  Curr Opin Genet Dev       Date:  2013-05-21       Impact factor: 5.578

Review 8.  Parental risk factors and anorectal malformations: systematic review and meta-analysis.

Authors:  Nadine Zwink; Ekkehart Jenetzky; Hermann Brenner
Journal:  Orphanet J Rare Dis       Date:  2011-05-17       Impact factor: 4.123

9.  Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele.

Authors:  Kristin M Corey; Christoph P Hornik; Matthew M Laughon; Kerstin McHutchison; Reese H Clark; P Brian Smith
Journal:  Early Hum Dev       Date:  2014-06-11       Impact factor: 2.699

10.  A multi-country study of prevalence and early childhood mortality among children with omphalocele.

Authors:  Wendy N Nembhard; Jorieke E H Bergman; Maria D Politis; Jazmín Arteaga-Vázquez; Eva Bermejo-Sánchez; Mark A Canfield; Janet D Cragan; Saeed Dastgiri; Hermien E K de Walle; Marcia L Feldkamp; Amy Nance; Miriam Gatt; Boris Groisman; Paula Hurtado-Villa; Kärin Kallén; Danielle Landau; Nathalie Lelong; Jorge Lopez-Camelo; Laura Martinez; Margery Morgan; Anna Pierini; Anke Rissmann; Antonin Šípek; Elena Szabova; Giovanna Tagliabue; Wladimir Wertelecki; Ignacio Zarante; Marian K Bakker; Vijaya Kancherla; Pierpaolo Mastroiacovo
Journal:  Birth Defects Res       Date:  2020-10-17       Impact factor: 2.661

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