The bronchopulmonary foregut malformation complex

Cincinnati Regional Incidence, Morbidity, and Mortality of Neonatal Foregut Defects and High Coincidence with Cardiovascular Malformations

“…Twenty-seven percent of patients with a congenital foregut malformation required respiratory support (nasal cannula or tracheostomy) at discharge compared with 6.3% of pyloric stenosis patient controls. Length of stay was also longer compared to the pyloric stenosis cohort (median [IQR] of 32 [18,87] days versus 5 [2,19] days versus 6.5 [3,26.5] days, respectively). Compared with controls, patients with a congenital foregut malformation diagnosis are at increased risk for considerably higher morbidity and mortality.…”

“…Population-based clinical genetic approaches have begun to establish new molecular insights into foregut malformations, e.g., Fog2 with congenital diaphragmatic hernia [14,15]. In addition, investigations using murine models have recreated certain well known human foregut defects such as esophageal atresia and tracheoesophageal fistula implicating specific molecular pathways in foregut organ development [4,16]; only some of these identified defects have been examined in relevant patients [17][18][19][20][21][22][23]. Demographic and clinical data were retrieved from existing medical records under an IRB approved protocol.…”

Congenitally palliated scimitar syndrome

“…Difficulties in the definition seem to reflect the wide spectrum of pulmonary developmental anomalies, and anatomical variants of scimitar anomaly that may be encountered. [1][2][3][4][5][6][7][8] We describe a rare variant that not only shares some features with variants already described [1][2][3][4][5][6][7][8] but also presents some original peculiarities.…”

Aberrant cell adhesion molecule expression in human bronchopulmonary sequestration and congenital cystic adenomatoid malformation

“…BPS is caused by aberrant formation of an accessory lung diverticulum that has budded from the primitive foregut in the embryonic period of lung development (5-6 wk of human gestation), resulting in either an intralobar or extralobar anatomical position. CCAMs are "adenomatous" overgrowths of terminal bronchioles that develop into cyst-like structures of varying sizes and airway pathology that develop during the first 5-10 wk of human development and are classified as type 0 to IV based on tissue histology, airway morphology, and cyst size (2,21,49,54,55). Many reports show that the histology and microscopic findings of BPS and CCAM often coexist within the same lesions suggesting related embryologic origins for these congenital airway anomalies (3,9,15,21,35,41).…”

“…CCAMs are "adenomatous" overgrowths of terminal bronchioles that develop into cyst-like structures of varying sizes and airway pathology that develop during the first 5-10 wk of human development and are classified as type 0 to IV based on tissue histology, airway morphology, and cyst size (2,21,49,54,55). Many reports show that the histology and microscopic findings of BPS and CCAM often coexist within the same lesions suggesting related embryologic origins for these congenital airway anomalies (3,9,15,21,35,41). Features that are similar in both anomalies suggest that their aberrant airway development results from an imbalance of proper mesenchymal-epithelial interactions in early lung morphogenesis at a time when dynamic and orchestrated changes in cell adhesion are known to alter cell migration and cell proliferation to coordinate airway branching.…”