Recognizing clinical features of primary ciliary dyskinesia in the perinatal period

Abstract

Primary ciliary dyskinesia (PCD) is a rare, motile ciliopathy inherited through mostly autosomal recessive variants that results in chronic ear, sinus, and respiratory disease. Despite neonatal respiratory distress being a common presenting symptom in term infants with PCD, the diagnosis is often delayed due to non-familiarity of neonatal caregivers with phenotypic and diagnostic features of this disease. Organ laterality defects, prenatal cerebral ventriculomegaly, and a family history of suppurative respiratory disease may occur in PCD and should prompt neonatal testing for this condition. In this review of neonatal PCD diagnoses in a large PCD clinic, prevalence and details of neonatal PCD issues are presented, highlighting the typically delayed onset of neonatal respiratory distress and lobar atelectasis on chest radiography, specific presentations in premature neonates, and responses to perinatal therapies.