Vater/Vacterl Association

Hall, Bryan D.

doi:10.1002/9780470893159.ch57

Cited by 3 publications

(2 citation statements)

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“…All single cases, did not show history of teratogenic etiologies or chromosomal aberrations [2-4]. The original acronym VATER has been widened into VACTERL, including Cardiovascular, Renal and Limb anomalies associated with the former ones [2,5-7]. Later, other authors suggested that diagnostic criteria should include Vascular anomalies (such as single umbelical artery) as part of the V in the acronym and other malformations (such as external genitalia and laryngotracheal anomalies) [2,8-12].…”

Section: Introductionmentioning

confidence: 99%

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

et al. 2013

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BackgroundVATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.MethodsData on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia.ResultsAmong 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype).ConclusionThe high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.

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Section: Introductionmentioning

confidence: 99%

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

et al. 2013

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“…In line with this, the 'nonspecific' combination of VACTERL features seems to emerge as a common presentation of diabetic embryopathy. At the moment, the lack of universally accepted diagnostic criteria for VACTERL association [Hall, 2010] hampers the possibility to test the existence of a phenotypic subtype, within the clinical spectrum of VACTERL association, which may be more specific for diabetic embryopathy. However, indirect data from table 1 envisage that the combination of 2 or more VACTERL features combined with an open neural tube defect and lacking tracheal-esophageal malformation (which, indeed, is not found to be associated with maternal diabetes; see, for example, Correa et al [2008]) could be the most typical presentation of diabetic embryopathy.…”

Section: Maternal Diabetes and Malformationsmentioning

confidence: 99%

Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood

Castori¹

2012

Mol Syndromol

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Maternal diabetes mellitus is one of the strongest human teratogens. Despite recent advances in the fields of clinical embryology, experimental teratology and preventive medicine, diabetes-related perturbations of the maternofetal unit maintain a considerable impact on the Healthcare System. Classic consequences of prenatal exposure to hyperglycemia encompass (early) spontaneous abortions, perinatal death and malformations. The spectrum of related malformations comprises some recurrent blastogenic monotopic patterns, i.e. holoprosencephaly, caudal dysgenesis and oculoauriculovertebral spectrum, as well as pleiotropic syndromes, i.e. femoral hypoplasia-unusual face syndrome. Despite this, most malformed fetuses display multiple blastogenic defects of the VACTERL type, whose (apparently) casual combination preclude recognizing recurrent patterns, but accurately testifies to their developmental stage at onset. With the application of developmental biology in modern medicine, the effects of diabetes on the unborn patient are expanded to include the predisposition to develop insulin resistance in adulthood. The mechanisms underlying the transgenerational correlation between maternal diabetes and proneness to adult disorders in the offspring remain unclear, and the epigenetic plasticity may represent the missing link. In this scenario, a development-driven summary of the multifaced consequences of maternal diabetes on fertility and child health may add a practical resource to the repertoire of available information on early stages of embryogenesis.

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Congenital Malformations of the Trachea

Zur

2013

Congenital Malformations of the Head and Neck

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Vater/Vacterl Association

Cited by 3 publications

References 32 publications

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood

Congenital Malformations of the Trachea

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