title: Correlation of presentation and pathologic condition in primary ciliary dyskinesia.
abstract: OBJECTIVE
  To better characterize primary ciliary dyskinesia (PCD) and improve the diagnosis of this uncommon disorder.
  
  
  METHODS
  We retrospectively reviewed the records of 118 patients with ciliary biopsy or brushing specimens examined at Yale University School of Medicine from 1991 to 2001.
  
  
  RESULTS
  Sinonasal, middle ear, and pulmonary infections were more common in patients with PCD-positive biopsy results than in those with negative results. In addition, PCD caused by random ciliary orientation presented similarly to PCD caused by other ultrastructural defects.
  
  
  CONCLUSIONS
  Patients who present with cough alone are highly unlikely to have PCD (chi(2 ) test, 24.85; P<.001). In contrast, patients who present with multiple manifestations are highly likely to have PCD (chi(2) test, 22.2; P<.001). This information may assist the clinician in the diagnosis of PCD.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Southern California Keck School of Medicine, Los Angeles, USA.
authors.forename: Gregory Y
authors.initials: GY
authors.lastname: Chin
authors.forename: David E
authors.initials: DE
authors.lastname: Karas
authors.forename: Michael
authors.initials: M
authors.lastname: Kashgarian
mesh_terms: D000293:Adolescent; D000328:Adult; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000473:pathology*; D046508:Culture Techniques; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009297:Nasal Mucosa / Q000473:pathology; D012189:Retrospective Studies; D012680:Sensitivity and Specificity