A Case of Primary Ciliary Dyskinesia Syndrome with Situs Ambiguous

Abstract

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease that develops as a result of ciliary dysfunction, and that presents with clinical findings that may vary depending on the affected system. Situs anomalies are common with PCD. Although approximately half of all cases are associated with situs inversus totalis, they may rarely be associated with situs ambiguous, which is a rare situs anomaly. We share this case of PCD with situs ambiguous due to its rarity.