Ciliary disorientation: a possible variant of primary ciliary dyskinesia

纤毛定向障碍:原发性纤毛运动障碍的一种可能变异型

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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.

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