Congenital diaphragmatic hernia and other congenital diaphragmatic defects are associated with significant mortality and morbidity in neonates; however, the molecular basis of these developmental anomalies is unknown. In an analysis of E18.5 embryos derived from mice treated with N-ethyl-N-nitrosourea, we identified a mutation that causes pulmonary hypoplasia and abnormal diaphragmatic developm...

Unilateral hypoplasia of a pulmonary artery (UHPA) is a rare condition that is usually associated with cardiac anomalies in childhood. In the absence of cardiac anomalies, patients may not be diagnosed until respiratory symptoms develop. We present two patients who were diagnosed as having isolated unilateral right pulmonary artery hypoplasia, one a woman aged 80 years, the other, a man aged 55...

Congenital cystic adenomatoid malformation of the lung is a developmental abnormality characterized by abnormal proliferation of terminal bronchioles forming cysts of varying sizes. Extensive lesions are associated with a poor prognosis due to the development of nonimmune hydrops and/or pulmonary hypoplasia. The advent of high-resolution ultrasonography has made it possible to identify these le...

Pulmonary hypoplasia is the incomplete development of lung tissue. A reduced number of lung cells, airways, and alveoli is the hallmark and can be seen unilaterally or in both lungs. The diagnosis, however, is usually made upon pathologic examination. Here we have presented a case of a term infant presenting with severe hypoxemic respiratory failure. Despite optimizing medical and respiratory m...

Tracheobronchial obstruction and unilateral hypoplasia of the pulmonary artery are serious barriers to successful Fontan completion. We describe a 5-year old girl with left bronchial obstruction, hypoplasia of the left pulmonary artery and a single ventricle (double inlet left ventricle). She had undergone external stenting to treat left bronchial stenosis at 3 years of age, bidirectional cavop...

BACKGROUND/PURPOSE The molecular pathophysiology of lung hypoplasia in congenital diaphragmatic hernia (CDH) remains poorly understood. The Wnt signaling pathway and downstream targets, such as bone morphogenetic proteins (BMP) 4 and other factors such as late gestation lung protein 1 (LGL1), are essential to normal lung development. Nitrofen-induced hypoplastic CDH rodent lungs demonstrate dow...

A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microsc...

Keutel syndrome is characterized by brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenoses, and midfacial hypoplasia. We report the first case from East Asia in an 8-month-old boy who had the typical craniofacial appearance characterized by midfacial hypoplasia with a broad depressed nasal bridge (Fig. 1). The distal phalanges of fingers were thickened. Auscultati...

We have carried out the study on the heart anomalies of the DHS mice and Pdn mice fetuses and newborns which are known to produce genetically induced polydactyly. The results have revealed that the heart anomalies are m,ainly isolated hypoplasia of the pulmonary artery and that these anomalies are not always associated with polydactyly. The isolated hypoplasia of the pulmonary artery show a ten...

The diagnosis of primary pulmonary vein stenosis is often overlooked because its symptoms overlap lung diseases and pulmonary arterial hypertension. Its diagnosis may be difficult because the condition is progressive and associated with other defects. We present a case of pulmonary vein stenosis in a newborn with stenosis of the left-sided common pulmonary vein, diffuse hypoplasia of the superi...