Most described cases present sporadically in early childhood. However, some have been diagnosed as late as adulthood. Due to its rarity it presents a difficulty in adult diagnoses, and its initial presentation can be confused with septic shock. Diagnosis requires an appropriate clinical history, the characteristic expiratory airway collapse on radiological investigation, and exclusion of other causes of congenital and acquired bronchiectasis. Pathology of the affected bronchi by bronchoscopy showing the deficiency of cartilaginous plates in the bronchial wall is the confirmatory test. However, lung biopsy has several complications and is not always diagnostic. Considering its non-invasive methodology, facility of execution, and good patient tolerance, multi-slice spiral CT or CT bronchoscopy should be the test of choice to study cystic lung diseases in particular WCS. Radiologically, the lungs are overinflated, and on bronchoscopy bronchomalacia is demonstrated.
Williams–Campbell syndrome
Keppen–Lubinsky syndrome
Avellis syndrome
DeSanto-Shinawi syndrome
Hecht Scott syndrome
Williams syndrome
Pelger–Huët anomaly
Shprintzen–Goldberg syndrome