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Primary Ciliary Dyskinesia Associated With a Novel Microtubule Defect in a Child With Down’s Syndrome*

Tom Kovesi, MD; Brian Sinclair, MD; Johnna MacCormick, MD; Mary Ann Matzinger, MD; Blair Carpenter, MD
Author and Funding Information

*Department of Pediatrics (Drs. Kovesi and Sinclair), the Department of Surgery (Dr. MacCormick), the Department of Diagnostic Imaging (Dr. Matzinger), and the Department of Pathology (Dr. Carpenter), Children’s Hospital of Eastern Ontario, Ottawa, Canada.

Correspondence to: Thomas Kovesi, MD, Department of Pediatrics, Children’s Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, Ontario, Canada, K1H 8L1; e-mail: kovesi@cheo.on.ca



Chest. 2000;117(4):1207-1209. doi:10.1378/chest.117.4.1207
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We present a child with Down’s syndrome, bilateral lower lobe bronchiectasis, sinusitis, and severe ear disease who was found to have a novel ciliary defect, with a frequent, partial absence of the walls of the A subunits of some peripheral doublets. The defect caused the A subunits to be “U-shaped” rather than “O-shaped.” A nuclear nasal mucociliary transport study confirmed that this defect was associated with abnormal mucociliary transport. The ciliary defect was not observed in a biopsy performed in a second patient who had Down’s syndrome.

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