Abstract: Unilateral pulmonary malformation presenting as agenesis, aplasia or
dysplasia is rare with variable outcome. Neonatal presentation does not allow
for a reliable prognosis, ranging from mild repiratory distress to severe
pulmonary failure requiring mechanical ventilation. Unilateral lung
malformation frequently indicates other, singular or complex defects (e.g.:
renal, vascular). Disrupted regulation of factors involved in early lung
morphogenesis (e.g. T-box-genes, Pitx2, FGgf 10 and cell signaling pathways
such as sonic hedgehog and Wnt) may be involved in the etiology of pulmonary
malformation. Suspected lung agenesis, aplasia and dysplasia on fetal
ultrasound should direct perinatal management and complete diagnostic work-up.
Consideration of associated anomalies frequently observed improves
identification and management of these potentially vital conditions. Presence of additional defects, predominantly vascular and/or genitourinary anomalies,
contribute significantly to prognosis. Pulmonary hypertension may result from
reduced lung vascular capacity. Development of thoracic deformity significantly
impacts quality of life in these patients. Interdisciplinary management is
required in presence of additional defects. This article reviews the current experience on neonatal management and long-term-follow-up including discussion
of prenatal diagnosis, the embryo-genetic basics of lung development and
suggestions for diagnostic work-up.
