Absence or hypoplasia of a pulmonary artery with anomalous systemic arteries to the lung.
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The results of diagnosis and treatment of bronchopulmonary pathology in 680 children were analysed. It was found that besides developmental anomalies of the lungs and trachea, those of the esophagus, mediastinal organs, diaphragm, and the aorta and its vessels play an important role in the pathogenesis of pulmonary diseases in infants and young children. Traditional and special methods of examination must be used in the diagnosis of these developmental anomalies. Timely correction of the developmental anomalies makes it possible to arrest the bronchopulmonary complications which are associated with them.
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Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities. The condition is caused by mutations in the CBFA1 gene, a transcription factor that activates osteoblast differentiation. Clinical characteristics associated with CCD have previously been described in case reports and small case series. This study was undertaken to gain a more complete delineation of clinical complications associated with CCD. The study population was composed of 90 CCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary Cesarean section rate was significantly increased compared to relative controls and the general population rate. Finally, dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, are serious and complex problems that require intervention. Clinical recommendations based on the results of this study are included.
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