Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder (Langer and Kaufmann, 1986).
Langer and Kaufmann (1986) stated that the radiologic diagnosis of primary pulmonary hypoplasia is possible if the following findings are seen: clear, small lungs in the early postpartum period, bilaterally elevated diaphragms, early development of pneumothoraces, after mechanical ... Langer and Kaufmann (1986) stated that the radiologic diagnosis of primary pulmonary hypoplasia is possible if the following findings are seen: clear, small lungs in the early postpartum period, bilaterally elevated diaphragms, early development of pneumothoraces, after mechanical ventilation or spontaneously, and 'bell shaped' thoracic configuration. The diagnosis is confirmed by the following clinical and laboratory findings: tachypnea, cyanosis, nasal flaring, intercostal retractions as signs of respiratory distress; hypercapnia, hypoxia, and acidosis.
Boylan et al. (1977) reported the first seemingly familial instance of bilateral pulmonary hypoplasia. Male and female infants who died shortly after birth were described. Both infants had associated malformations, including prominent epicanthic folds, mild micrognathia, and low ... Boylan et al. (1977) reported the first seemingly familial instance of bilateral pulmonary hypoplasia. Male and female infants who died shortly after birth were described. Both infants had associated malformations, including prominent epicanthic folds, mild micrognathia, and low set ears; one had cleft palate. An older sib had a partial defect of the right diaphragm and rudimentary right lung. Frey et al. (1994) reported a family in which 3 infants, 2 with definite and 1 with possible isolated pulmonary hypoplasia, died in the neonatal period. Podlech et al. (1995) reported a newborn female who died immediately after birth and was found to have agenesis/aplasia of both lungs with a rudimentary right bronchus and distal tracheal atresia. No other malformations were observed. A later pregnancy was terminated at 21 weeks' gestation after ultrasound showed agenesis of both lungs. Postmortem examination of the second affected child showed bilateral absence of both lungs and a 5-mm solid round formation at the hilar region in the right thoracic cavity, which was shown histologically to be a rudimentary bronchus. No lung veins leading to the left atrium were observed, and there were no aortic ostia of bronchial arteries. The trachea was atretic in its distal part. No other abnormalities or malformations were observed. Fokstuen and Schinzel (2000) described unilateral right pulmonary agenesis in a brother and sister born of healthy nonconsanguineous parents. The first child had respiratory symptoms from the age of 11 months with recurrent infections and asthma. These became more severe at the age of 24 years and she died at the age of 42 years, secondary to cor pulmonale. Autopsy showed agenesis of the middle lobe, aplasia of the upper lobe, and hypoplasia of the lower lobe of the right lung with hypoplasia of the right pulmonary artery. The second child had respiratory symptoms from early life. He died at the age of 9 months after severe asthmatic decompensation. Autopsy showed agenesis of the right upper lobe with severe hypoplasia of the right pulmonary artery and dextrocardia. In addition, he had bilateral stenosis of the ureters with hydroureters and hydronephrosis, and a small accessory spleen. Both patients also had dextrocardia.
In a deceased child with severe lethal primary pulmonary hypoplasia and unilateral diaphragmatic defect (see, e.g., 142340 and 610187), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003) on chromosome 8q23. Postmortem ... In a deceased child with severe lethal primary pulmonary hypoplasia and unilateral diaphragmatic defect (see, e.g., 142340 and 610187), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003) on chromosome 8q23. Postmortem examination showed incomplete lung fissures bilaterally and a deep posterior left diaphragmatic eventration. The heart was grossly normal. Ackerman et al. (2005) suggested that mutations in the ZFPM2 gene may result in primary pulmonary and diaphragmatic defects.