VACTERL association: A Case Report of a congenital malformations
Abstract
VACTERL / VATER association is defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, trachea-esophageal fistula, renal anomalies and limb abnormalities. It is diagnosed clinically by the above features with presence of core component features like trachea-esophageal fistula or ano-rectal malformations. Etiology is largely unknown. Management centers on surgical correction of the specific congenital malformations in the immediate postnatal period followed by long term treatment of the sequelae. Prognosis is good if surgical correction is achieved but majority continue to be affected by their malformations throughout life.
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Introduction
VACTERL Association is a statistically non-random co-occurrence of a group of congenital malformations which include vertebral defects, anal atresia, trachea-oesophageal fistula with/without oesophageal atresia, radial and renal anomalies with limb malformations. Because these malformations were observed to occur more often than would be expected by chance, the condition was termed an association and not a syndrome. 1 The diagnosis requires at least 3 component features for which there is no alternate causal explanation. 2 The incidence varies from 1/10000 to 1/40000 live births. 1
A case of VACTERL association having anal atresia, vertebral defects , limb anomalies as the main component features along with ambiguous genitalia attended at the SMS Medical College, Jaipur. The case was thoroughly evaluated and a case report was prepared to publish.
Conclusion
A case like VACTERL / VATER association having multiple congenital malformations are only able to manage at an experienced centre having a co-ordinated multi-disciplinary team. So such type of cases should be referred to these higher centers to have better results. The patients, families and treating clinicians should be encouraged to seek care through such specialty clinics in order to achieve best possible outcome.