A Syndrome of Multiple Congenital Anomalies Associated With Teratogenic Exposure

Nora, Audrey H.; Nora, James J.

doi:10.1080/00039896.1975.10666626

Cited by 195 publications

(66 citation statements)

References 21 publications

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“…The anomalies include: V, vertebral or vascular defects; A, anal malformation; C, cardiac anomaly; TE, tracheoesophageal fistula with esophageal atresia; R, renal anomalies, and L, radial limb anomalies [1][2][3][4][5][6]. We have observed the occurrence of even more than the seven defects found in the VACTERL association.…”

Section: Introductionmentioning

confidence: 78%

Characteristic Findings for Diagnosis of Baby Complicated with both the VACTERL Association and Duodenal Atresia

et al. 2004

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The VACTERL [vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheal-esophageal fistula with esophageal atresia (TE), renal defects (R), and radial limb dysplasia (L)] association can sometimes be diagnosed by ultrasonography and magnetic resonance imaging (MRI). Although the preaxial limb anomalies on ultrasonography were strongly associated with VACTERL association, the rate of limb anomalies is low. On ultrasonography, useful findings for prenatal diagnosis are a combination of esophageal atresia with hydramnion and renal anomalies. If esophageal atresia cannot be detected due to masking, diagnosis may be very difficult. In this case report, we reported the VACTERL association along with duodenal atresia. The detection of characteristic findings (enlarged stomach and duodenum, possibly change in gallbladder) by use of ultrasonography and MRI might be useful for the prenatal diagnosis of such cases.

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Section: Introductionmentioning

confidence: 78%

Characteristic Findings for Diagnosis of Baby Complicated with both the VACTERL Association and Duodenal Atresia

et al. 2004

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“…For example, CRS can be found in association with OEIS complex (omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects) [48,49] the description of seven patients who had at least three of the following features: vertebral defects, anal atresia, tracheoesophageal fistula, and radial and renal dysplasia [50]. Shortly thereafter, additional features, such as cardiac malformations and additional limb abnormalities, were added, and the condition was called VACTERL syndrome, which remains the more prevalent term according to our survey [50][51][52][53][54][55][56]. However, the precise definition has remained uncertain [57].…”

Section: Crs and Associated Anomalies Of Other Systemsmentioning

confidence: 99%

Etiology of Caudal Regression Syndrome

Semba¹,

Yamamura²

2013

Human Genet Embryol

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Caudal regression syndrome (CRS) is a rare congenital disorder in which lumbosacral anomalies are combined with anorectal and urogenital malformations. However, the molecular mechanisms of human CRS are not yet known. Trauma, nutritional problems, toxic agents, and genetics are suggested in the etiology of CRS. To the best of our knowledge, linkage studies of families affected exclusively by CRS or total sacral agenesis have not been conducted. In spite of the small number of familial cases reported, some specific genes have been shown to cause defined phenotypes. Environmental factors also may act as an enhancer in the etiology for CRS. There are several mutant mice that are considered as models for CRS, showing characteristic vertebral, anorectal, and urogenital abnormalities. Understanding the mechanisms for CRS development gives us valuable information to understand better what mutations may cause or contribute to CRS in humans. This review highlights the current evidence that pinpoints the link to the etiology of CRS.

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“…Recognition of ARA is important not only because surgical correction is required after delivery but also because it is frequently associated with other anomalies [2][3][4][5][6][7]. An association between vertebral, anal, cardiovascular, tracheoesophageal, renal, and limb malformations has been recognized and termed the VACTERL syndrome [2][3][4][5][6][7]. Anorectal anomalies are also found frequently in association with sacral agenesis and lower limb hypoplasia as part of the caudal regression syndrome [8].…”

mentioning

confidence: 99%