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Referral Rates and Diagnostic Evaluation for Primary Ciliary Dyskinesia in Patients With Laterality Defects Who Meet Primary Ciliary Dyskinesia Evaluation Criteria

To determine if pediatric patients with laterality defects and meet the diagnostic criteria for primary ciliary dyskinesia (PCD) evaluation are being referred to and evaluated by pediatric pulmonologists. There are… Click to show full abstract

To determine if pediatric patients with laterality defects and meet the diagnostic criteria for primary ciliary dyskinesia (PCD) evaluation are being referred to and evaluated by pediatric pulmonologists. There are organ laterality defects in 50% of patients with PCD. Thus, patients with laterality defects are more likely to raise suspicion for PCD than those without laterality defects. We hypothesize that even in patients with laterality defects who meet PCD evaluation criteria, referral rates are low, leading to underdiagnosis (2).

Keywords: ciliary dyskinesia; laterality defects; primary ciliary; laterality; evaluation

Journal Title: Pediatric Pulmonology
Year Published: 2025

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