Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine ...
Importantly, patients with VACTERL association do not tend to have neurocognitive impairment. Disease name and synonyms VACTERL association (ORPHA887) VATER association (ORPHA887) Definition and diagnostic criteria VATER association was first named in the early 1970's. As initially described, the ...
As various studies have used differing diagnostic criteria and ascertainment methods, the incidence is difficult to pinpoint. Studies have estimated the frequency to be between less than 1/10,000 to 1/40,000 infants (approximately <1-9/100,000 infants) [8,11,12]. However, care must be tak...
criteria of VACTERL association were identified,their clinical and imaging findings were analyzed.Results Four children met the diagnostic criteria of VACTERL association.Among them one patient had esophageal atresia with tracheoesophageal fistula,thoracic hemivertebrae,absent of right 11th rib and ...
Performance remains imperfect. Review of specific criteria (such as definition of vertebral body screening) will help address this. 展开 关键词: Anorectal malformations Imperforate anus Screening VACTERL association DOI: 10.1007/s00383-017-4094-3 年份: 2017 ...
Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the ...
We present data on 79 patients diagnosed with VACTERL association and perform statistical analysis on a selected subset of 60 patients with at least three component features, and who, after review, did not meet criteria for a likely alternate diagnosis. Considered individually, no two component ...
Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the ...
1795 (36.2%) had 3 or more anomalies and met criteria for a VACTERL diagnosis. VACTERL associations are relatively common in children with EA/TEF and ARM and occur in specific clusters, with cardiac disease more common in EA/TEF and spinal and renal/urinary anomalies more common in ARM....
We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL.In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal...