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Diagnosing Primary Ciliary Dyskinesia can often be difficult. Physical findings suggest the disease, but definitive diagnosis should be made with a ciliary biopsy. Twenty biopsies were obtained from 16 patients and all underwent both light and electron microscopic examination. In 8/20 (40%) there was a discrepancy between the different imaging techniques. Therefore, light microscopy should be used to assess adequacy of biopsy and motion of the cilia along with electron microscopy to examine ultrastructure.
Kupferberg et al. (Fri,) studied this question.
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