Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. The post-mortem examination reveal...

Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy n...

Scimitar syndrome or pulmonary venolobar syndrome is a rare, complex, and variable malformation of the right lung characterized by an abnormal right sided pulmonary drainage into the inferior vena cava, malformation of the right lung, abnormal arterial supply, and sometimes cardiac malformation. Despite the varying degrees of pulmonary hypoplasia and pulmonary artery hypertension, about half of...

Subchorionic placental cysts are a relatively common finding in obstetrical sonographic evaluation, but they are usually single and the pregnancy outcome is almost always normal. This is a case report about a rare case of multiple and large subchorionic cysts associated to intrauterine growth restriction in third trimester, due to fetal constriction by the growing cysts. Pregnancy interruption ...

There are several congenital lung lesions that result in severe pulmonary hypoplasia and neonatal death. These malformations include congenital diaphragmatic hernia (CDH), oligohydramnios induced pulmonary hypoplasia, and congenital cystic adenomatoid malformation of the lung. Severely affected newborns are not salvageable by current surgical techniques or medical treatment, although one new ex...

BACKGROUND This study was undertaken to determine outcomes and best strategies for treatment of occluded pulmonary arteries in patients with congenital heart disease. METHODS AND RESULTS Between 1998 and 2002, occlusion of a previously patent pulmonary artery was established in 23 patients. Data were obtained retrospectively. Diagnoses were pulmonary atresia and ventricular septal defect in 1...

is widely accepted that for lung development to proceed normally, physical space in the fetal thorax must be adequate and amniotic fluid must be brought into the lung with fetal breathing movements. Thus, it follows that extrinsic compression of the fetal thorax causes hypoplasia, either by inhibiting respiratory movements or by forcing out fluid from the lungs. The latter hypothesis was suppor...