In recent years there have been advances in the biology of renal malformations. Our focus is on human disease, but we will use animal paradigms when relevant. The mammalian kidney derives from two metanephric components (1-5): ureteric bud, which forms collecting ducts and uroepithelium, and renal mesenchyme, which forms nephrons. The human metanephros appears at 5 wk gestation, and glomeruli f...

PURPOSE To evaluate changes in body and internal organ weight of autopsied children in the perinatal period and their relationship with the cause of death. METHODS One hundred and fifty three cases of perinatal autopsies performed at a university hospital in Southeastern Brazil ere included. Information about cause of perinatal death, date of autopsy, gestational age, perinatal weight and org...

The lungs are generated by branching morphogenesis as a result of reciprocal signalling interactions between the epithelium and mesenchyme during development. Mutations that disrupt formation of either the correct number or shape of epithelial branches affect lung function. This, in turn, can lead to congenital abnormalities such as cystadenomatoid malformations, pulmonary hypertension or lung ...

INTRODUCTION Pulmonary hamartoma is a rare benign tumor of the lung, accounting for 3% of all tumors of the lung (1). The term hamartoma was first introduced by Albrecht in 1904 to describe tumor-like malformations resulting from a presumptive development abnormality. In 1934, Goldsworthy applied this term to benign tumors located in the lung that were predominantly composed of a combination of...

Pulmonary arteriovenous malformations (PAVMs), although most commonly congenital, are usually detected later in life. CASE REPORT We present a case of a 19-year-old woman with no previous history of AVM or telangiectasia, who presented dyspnea and hypoxia by massive left hemothorax in the 34th week of gestation. After emergent cesarean delivery, a chest computed tomography (CT) with i.v. cont...

Herein, we demonstrate that Lrp6-mediated R-spondin 2 signaling through the canonical Wnt pathway is required for normal morphogenesis of the respiratory tract and limbs. We show that the footless insertional mutation creates a severe hypomorphic R-spondin 2 allele (Rspo2(Tg)). The predicted protein encoded by Rspo2(Tg) neither bound the cell surface nor activated the canonical Wnt signaling re...

Malformations which occur during the development of the avian body organs can lead to structural and functional abnormalities. Most defects are recognized at hatching, but some go undetected until somewhat later. The cause of the majority of animal congenital malformations is unknown. A significant proportion of congenital malformations of unknown cause are likely to have an important genetic c...

Congenital pulmonary airway malformation (CPAM) of the lung is a rare lesion that typically manifests as neonatal respiratory distress, secondary to progressive expansion of the affected lung. Three distinct types have been described, based on the size of the cysts and the microscopic appearance. Type II lesions may carry a poor prognosis because of associated renal and cardiac anomalies. Malfo...

The purpose of this study was to investigate the factors associated with symptomatic neurologic complications in solitary pulmonary arteriovenous malformations (PAVMs). Patient data were obtained from 14 institutions. Data 207 patients (28 men, 179 women; median age, 65 years; age range, 9–94 years) who diagnosed a PAVM by CT between 2004 and 2020 analyzed. Of these, 104 underwent treatment 103...