title: Ciliary disorientation: a possible variant of primary ciliary dyskinesia.
abstract: Random ciliary orientation has recently been proposed as a variant of primary ciliary dyskinesia. We report a 12 year old boy with all the features of primary ciliary dyskinesia and absent nasal mucociliary clearance in whom repeated biopsies of the nasal epithelium showed normal ciliary beat frequency. The only abnormality discovered was disorientation of the central microtubules of his cilia.
authors.affiliation: Department of Thoracic Medicine, Royal Brompton National Heart and Lung Institute, London.
authors.forename: A
authors.initials: A
authors.lastname: Rutman
authors.forename: P
authors.initials: P
authors.lastname: Cullinan
authors.forename: M
authors.initials: M
authors.lastname: Woodhead
authors.forename: P J
authors.initials: PJ
authors.lastname: Cole
authors.forename: R
authors.initials: R
authors.lastname: Wilson
mesh_terms: D002648:Child; D002923:Cilia / Q000502:physiology / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009079:Mucociliary Clearance; D009297:Nasal Mucosa / Q000502:physiology / Q000648:ultrastructure*