Isolated Gastroschisis in Successive Siblings: A Case Report and Review of the Literature

Snelling, C. M. H.; Davies, Gregory

doi:10.1016/s1701-2163(16)30378-4

Cited by 6 publications

(5 citation statements)

References 22 publications

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“…Conversely, Bugge et al 1994 report a set of MZ twins discordant for gastroschisis. Ten families have been reported having two affected sibs concordant for gastroschisis [Salinas et al, 1979; Lowry and Baird, 1982; Ventruto et al, 1985; Carey et al, 1987; Chun et al, 1993; Torfs and Curry, 1993; Snelling and Davies, 2004]. Torfs and Curry 1993 report on six familial cases with half‐sibs or more distant relatives concordant for gastroschisis.…”

Section: Causementioning

confidence: 99%

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

Feldkamp

Carey

Sadler

2007

American J of Med Genetics Pt A

198

204

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Gastroschisis, a ventral body wall defect, is a continuing challenge and concern to researchers, clinicians, and epidemiologists seeking to identify its cause(s) and pathogenesis. Concern has been renewed in recent years because, unlike most other birth defects, rates of gastroschisis are reportedly increasing in many developed and developing countries. No tenable explanation or specific causes have been identified for this trend. Rates of gastroschisis are particularly high among pregnancies of very young women. Such an intriguing association, not observed to this degree with other birth defects, may afford clues to the defect's cause. Understanding the causes of gastroschisis may provide insight to the defect's origin. In pursuing such causal studies, it would be helpful to understand the embryogenesis of gastroschisis. To date, four main embryologic hypotheses have been proposed: (1) Failure of mesoderm to form in the body wall; (2) Rupture of the amnion around the umbilical ring with subsequent herniation of bowel; (3) Abnormal involution of the right umbilical vein leading to weakening of the body wall and gut herniation; and (4) Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation. Although based on embryological phenomena, these hypotheses do not provide an adequate explanation for how gastroschisis would occur. Therefore, we propose an alternative hypothesis, based on well described embryonic events. Specifically, we propose that abnormal folding of the body wall results in a ventral body wall defect through which the gut herniates, leading to the clinical presentation of gastroschisis. This hypothesis potentially explains the origin of gastroschisis as well as that of other developmental defects of the ventral wall.

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Section: Causementioning

confidence: 99%

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

Feldkamp

Carey

Sadler

2007

American J of Med Genetics Pt A

198

204

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“…Varios estudios epidemiológicos han identificado complejas interacciones entre factores ambientales y múltiples genes (10). Han sido publicados casos recurrentes familiares en hermanos, gemelos monozigóticos con malformación discordante, en hijos del mismo padre y en madre e hijo (11)(12)(13)(14)(15). Se han descrito antecedentes familiares de esta malformación en el 2,4 % de los casos con diagnóstico de gastrosquisis, y en el 3,5 % se encuentran relacionados en familiares en primer grado de consanguinidad (11).…”

Section: Resultsunclassified

Diagnosis of recurrent gastroschisis in Cali, Colombia: A case report and review of the literature

Olivares-Concha¹,

Delgado-Gutiérrez²,

Quintero-Mejía³

2014

Rev. Colomb. Obstet. Ginecol.

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Objetivo: hacer una revisión de la literatura acerca de la fisiopatología en gastrosquisis, en especial lo relativo a las teorías de etiología genética de esta patología.Materiales y métodos: se presenta el caso clínico de un feto y posterior neonato con diagnóstico de gastrosquisis en una madre con historia previa de otro hijo con la misma patología. Se desarrolló una búsqueda de la literatura en la base de datos Medline/PubMed publicada en español e inglés durante el periodo comprendido entre enero de 2000 a enero de 2013. Se utilizaron los términos: gastrosquisis, pared abdominal, anomalías, genética. Se incluyeron artículos de revisión, reporte de casos y estudios de corte transversal.Resultados: se revisaron 90 artículos relacionados sobre los factores de riesgo implicados en el desarrollo de la gastrosquisis, y 23 artículos relacionados con gastrosquisis y genética. La gastrosquisis que se produce en los hermanos es rara, hay solo 14 casos publicados de gastrosquisis familiar en la literatura. Varios estudios epidemiológicos han identificado complejas interacciones entre factores ambientales y múltiples genes.Conclusión: la gastrosquisis constituye un evento poco frecuente y es de etiología incierta. Esta condición permanece como un dilema epidemiológico y patogenético. Se requiere investigación adicional para aclarar la etiología multifactorial de la gastrosquisis.

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“…). Genes so far defined by omphalocele syndromes are probably those effecting pattern transformation (e.g., fibroblast growth factor receptors, Nichol et al, ; filamin A in Melnick‐Needles syndrome, Foley et al, ) rather than pattern genesis, as for the few genes associated with gastroschisis susceptibility [Snelling and Davies, ], including the cell adhesion molecule, atrial natriuretic peptide, and nitric oxide synthase 3 noted by Torfs et al []. The molecules involved in establishing A‐P and D‐V gradients in the 3‐week embryo, the earliest contributors to AWD, would be present in the oriented egg cytoplasm and, by analogy to fly genes [Nüsslein‐Volhard et al, ], may exhibit maternal genetic effect [Wilson, ].…”

Section: Discussionmentioning

confidence: 99%

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields

Wilson

2015

American J of Med Genetics Pt A

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Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were classified and analyzed for mechanism, beginning with 1,831 gastroschisis cases, 774 (41%) with 2,368 associated anomalies (AA) and 814 of omphalocele, 727 (89%) with 4,092 AA. Typical AA profiles for Trisomy 18 (23% of omphalocele cases) and Beckwith-Wiedemann syndrome (15%) validated registry AA descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (ADAM) complex (23%) and amyoplasia/arthrogryposis (16%). Separation of known diagnoses, fetal-stillbirth cases, and transitional or secondary AA left 330 cases of gastroschisis with 594 AA (452 major, 142 minor) and 295 cases of omphalocele with 956 AA (683 major, 273 minor). Anomalies suggestive of vascular origin (intestinal atresias, amyoplasia, bands) were more frequent with gastroschisis and those of defective lateral folding (exstrophies, limb-body wall defects) with omphalocele. Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for gastroschisis versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ∼11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), anal atresia (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%). Similar frequencies of many AA reflective of early patterning support common AWD origin within early developmental fields and reinforce the use of large birth defect numbers from suitably qualified registries to define anomaly mechanism as well as prevalence.

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Isolated Gastroschisis in Successive Siblings: A Case Report and Review of the Literature

Cited by 6 publications

References 22 publications

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

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

Diagnosis of recurrent gastroschisis in Cali, Colombia: A case report and review of the literature

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields

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