Search results for "bronchomalacia"
showing 2 items of 2 documents
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
2020
Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventil…
Diagnostik der trachealen Instabilität: Spiral-CT in Inspiration und Exspiration und respiratorische cine-CT∗
2000
ry Spiral CT and Cine CT. Purpose: In tracheo- and broncho-malacia, localization and determination of collapse is necessary for planning a surgical procedure. We compared inspiratory and spiral CT, cine CT, and bronchoscopy and evaluated the relevance of each method. Methods: Seventeen patients with suspected or verified tracheal stonosis or collapse underwent paired inspiratory and exspiratory spiral CT and cine CT during continuous respiration (temporal increment 100 ms). The tracheal cross-sectional area was calculated and compared. Results : In addition to bronchoscopy, further information concerning localization, extent, collapse, stability of the tracheal wall, distal portions of the …