Pulmonary agenesis as part of the VACTERL sequence

Abstract

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