Congenital pulmonary and thoracic anomalies are rare malformations present from birth, with sometimes clinical manifestations later in life. Understanding the etiology of these malformations is important both for their management and for the anticipation of their clinical evolution. In this context, the study of embryogenesis and the various factors influencing pulmonary development could guide the therapeutic decisions proposed to these patients. The objective of this manuscript is to review the state of knowledge on the different pulmonary malformations from a clinical and translational standpoint and to discuss research perspectives. The manuscript includes five scientific papers. The one focuses on the tracheal bronchi observed from 5,970 children who underwent bronchoscopy for respiratory examinations. The subsequent results allowed improving clinical knowledge of such malformation. The second article is dedicated to the study of pulmonary hypoplasia in patients with congenital heart disease (CHD). Data obtained on 119 fetuses with CHD were prospectively examined for cardiac and pulmonary abnormalities. The results suggests that an altered interaction between endothelial cells, the surrounding epithelium and the mesenchyma could influence the development of pulmonary hypoplasia without an abnormality of the pulmonary vascular system. The third paper focuses on the potential neonatal consequences of congenital pulmonary anomalies (CPAM). The analysis of various parameters (ratio of maximum CPAM volume, polyhydramnios and ascites) is proposed to predict CPAM evolution and to define the requirement of a tertiary care center for delivery. The fourth paper describes the role and importance of a database and a related biobank in the study of rare diseases such as congenital pulmonary anomalies. The last article is dedicated to the study of paraffin-embedded samples of CPAM using immunostaining and proteomic analyses. Results show that there is no clear correlation between the CPAM origins and their onset during embryogenesis. The understanding of the interactions between lung cells during embryogenesis seems to be a key step to anticipate malformations to occur and to improve patient's follow-up. The papers included in this manuscript open new perspective for clinical and translational studies.