VACTERL Association
نویسندگان
چکیده
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects. In order to be classified as having this association, an individual must exhibit at least three of the seven aforementioned phenotypes. Because of this, individuals affected with VACTERL are usually vastly different from one another.
منابع مشابه
Association of VACTERL with truncus arteriosus, left-sided aortic arch, hypoplastic pulmonary arteries, and severe radial axis defect
Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomali...
متن کاملMitochondrial Factors and VACTERL Association-Related Congenital Malformations.
VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER associa...
متن کاملIs Duane retraction syndrome part of the VACTERL association?
We report here a patient with type 1 Duane's retraction syndrome and multiple congenital abnormalities as a result of the VACTERL association. The presented combination of Duane's retraction syndrome and the VACTERL association has not been reported in the literature. The present case was instructive for reviewing the continuous spectrum of ocular anomalies that accompany the VACTERL association.
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملVACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often arise de novo, are frequently associated with human disease. A genetic contribution has long been...
متن کاملAssociation of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies with auricle atresia; a case report
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies (VACTERL) is rare anomaly with an incidence of 1.6 per 10000 births. This condition is a combination of anomalies recognized as a hereditary entity with poor prognosis. Herein, we report VACTERL association presenting with auricle atresia. A male neonate with a birth weight of 2690 grams, head circumference 3...
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