Figure Legends:
Figure 1 : Upper panel: Lung histopathology: A: Medium power
view shows underdeveloped lung parenchyma with many enlarged and
simplified alveoli and thick interstitium. The enlarged alveoli are
associated with double capillary layers (arrows). B: Markedly dilated
and congested thin walled vessels are present within the bronchoarterial
bundles (Br: bronchiole, PA: pulmonary arteries) consistent with dilated
bronchial veins of IBA and resembling those of misaligned pulmonary
veins (MPV) seen in ACD (arrows). Lover panel: Expression ofFOXF1 (C) and TMEM (D)A decrease in the expression ofFOXF1 and TMEM in the proband similar to that observed in
ACDMPV patients due to FOXF1 haploinsufficiency is seen (One-way
ANOVA with Tukey Test: p < 0.01). ACDMPV 179.3:
paternal deletion of the FOXF1 enhancer. Error bars represent
standard deviation.