Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by immotile, dysmotile, or absent cilia. The defect in ciliary motion leads to anomalous mucociliary clearance, resulting clinically in recurrent or persistent sinorespiratory infections and infertility. Primary ciliary dyskinesia occurs in approximately 1 in every 20,000 to 60,000 individuals in the United States, although this is likely an underestimate of the actual incidence.

There is considerable variability in the clinical presentation of PCD, leading frequently to delays in diagnosis. The symptoms of PCD correspond to the organs where ciliary motility is a crucial component of normal function. Upper and lower respiratory tract involvement is common. Neonatal respiratory distress, often attributed to transient tachypnea of the newborn or neonatal pneumonia, is frequently seen retrospectively in patients later diagnosed as having PCD. Recurrent pneumonia and bronchiectasis can be seen in young children. Chronic persistent rhinosinusitis is almost universally present in patients with...

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