Clinical geneticists' views of VACTERL/VATER association.
ABSTRACT VACTERL association (sometimes termed "VATER association" depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. 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 the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association. © 2012 Wiley Periodicals, Inc.
- The Journal of pediatrics 12/2013; · 4.02 Impact Factor
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ABSTRACT: To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement. The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013. Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%. Costovertebral anomalies were the most frequent feature, found in 23 patients (92%). All 3 core features (anal atresia, tracheoesophageal fistula with esophageal atresia, and costovertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not part of the VACTERL spectrum, showing a specific pattern of non-VACTERL-type malformations, including genitourinary abnormalities (12%), single umbilical artery (8%), and tethered cord (8%). Previously unreported clinical findings were concurrent hypoplasia of both the odontoid process and the coccyx in 2 patients and an isolated sacral dimple in 2 patients. Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype.The Journal of pediatrics 11/2013; · 4.02 Impact Factor
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ABSTRACT: Introduction Around half of patients with esophageal atresia (EA) have additional congenital anomalies. Hypertrophic pyloric stenosis (HPS) in these patients is less known, with only 36 cases reported in the past literature. This retrospective study aimed to establish the incidence and clinical presentation of EA patients in combination with HPS in our hospital.Materials and Methods A retrospective study was based on the medical histories from all patients with EA who underwent surgical repair in our hospital from 1988 through 2012.Results Of 267 patients with EA, 20 also developed HPS (7.5%). The latter group showed male predominance, 90 versus 60% in the EA without HPS group. The first symptoms of HPS were mostly vomiting and/or feeding intolerance (n = 19). The diagnosis was mostly delayed, with a median of 6 days (range, 1-21 days).Conclusions This is the first report on the high incidence of HPS in a large series of EA patients. The incidence found is 30 times higher than that in the normal population. HPS should be considered when patients show recurrent or persisting vomiting and feeding intolerance after surgery. The reason for the higher incidence should be further investigated.European Journal of Pediatric Surgery 08/2013; · 0.84 Impact Factor