PMC2629021_01
Chest radiograph showing severe RDS
umj7801-051-f1.jpg
PMC2629021_01_umj7801-051-f1.jpg
fig1
Initial investigations showed a high white cell count, a normal C-reactive protein and a white-out of both lung fields on chest radiograph, consistent with RDS (Figure 1).
PMC2629021_02
DNA sequencing showing two ABCA 3 mutations (arrowed)
umj7801-051-f2.jpg
PMC2629021_02_umj7801-051-f2.jpg
fig2
Hence the baby was a compound heterozygote, with critically significant effects on her lung function (Fig 2).