title: Primary ciliary dyskinesia associated with a novel microtubule defect in a child with Down's syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada. kovesi@cheo.on.ca
authors.forename: T
authors.initials: T
authors.lastname: Kovesi
authors.forename: B
authors.initials: B
authors.lastname: Sinclair
authors.forename: J
authors.initials: J
authors.lastname: MacCormick
authors.forename: M A
authors.initials: MA
authors.lastname: Matzinger
authors.forename: B
authors.initials: B
authors.lastname: Carpenter
mesh_terms: D001706:Biopsy; D002648:Child; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008870:Microtubules / Q000473:pathology*; D011877:Radionuclide Imaging