A rare case of VACTERL association in new born

Abstract

VACTERL Association is complex, non-random sporadic association of various birth defects. It includes vertebral, anal anomalies, cardiovascular, tracheoesophageal, renal anomalies, radial anomalies and limb abnormalities.It is first described in 1970s. Full spectrum association is a very rare entity.VACTERL is considered to be present if any three of the above-mentioned abnormalities are present. Along with these features, patients might present with other external anomalies like lung lobation defects, external ear anomalies etc. However, the full spectrum of VACTERL association is very rare diagnosis mainly by clinical approach. Multidisciplinary approach and treatment of surgically correctable anomalies provide a better outcome for this association in new born period. Tracheoesophageal fistula is associated in more than 70 percent of the cases. Limb defects are also present in 70 percent of the cases. Anal atresia is present in 55 percent of the cases. VACTERL Shows phenotypic overlap with various conditions like Goldenhar syndrome, Fanconi anaemia, CHARGE syndrome etc. Here in we are reporting a case of VACTERL with presence of cardiovascular abnormality, Tracheoesophageal fistula and limb abnormalities.

Absent Thumb and Radius in a Neonate With Tracheo-Esophageal Fistula and Ventricular Septal Defect: VACTERL Association

“…VACTERL association is an acronym for a condition characterized by sporadic, non-random association of specific congenital disabilities of multiple organ systems [ 1 ]. The incidence of VACTERL association is 1 in 10,000 to 1 in 40,000 live births [ 2 ].…”