Pulmonary agenesis as part of the VACTERL sequence

Pulmonary agenesis is an uncommon anomaly that has been reported in isolation and in association with other congenital defects. Such defects include oesophageal atresia, cardiac malformation, horseshoe kidney, and anal atresia. Over a period of three years we have seen five neonates or fetuses with unilateral agenesis of the lung. All the cases had three or more anomalies seen in the VACTERL sequence in addition to the pulmonary atresia. None had a tracheo-oesophageal fistula. None were the products of consanguineous marriages. There had been no recurrence of this range of defects in any of the families at the time of writing. We suggest that pulmonary agenesis may occur as an alternative to tracheo-oesophageal fistula in the VACTERL sequence.