Clinical expressions of immotile cilia syndrome.
To date three distinct morphologic types of immotile cilia disorder in man have been recognized. Patients with the disorder have variable clinical manifestations of disease of the upper and lower respiratory tract. Twenty-one patients with immotile cilia syndrome have been evaluated from the standpoint of history, clinical presentation, radiologic changes, pulmonary function tests, and mucociliary clearance. The results have been compared to the pathologic changes noted on ultrastructural examination of the cilia. Although clinical severity does not correlate with the type of abnormality found, a profile of clinical signs and symptoms suggestive of immotile cilia syndrome has emerged. The triad of productive cough, sinusitis, and otitis was a consistent finding in all. Situs inversus occurred in only half of the patients.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000503:physiopathology* / Q000648:ultrastructure; D003371:Cough / Q000175:diagnosis; D004398:Dyneins / Q000172:deficiency; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010031:Otitis / Q000175:diagnosis; D012129:Respiratory Function Tests; D012140:Respiratory Tract Diseases / Q000175:diagnosis*; D012852:Sinusitis / Q000175:diagnosis; D012857:Situs Inversus / Q000175:diagnosis; D013183:Sputum / Q000032:analysis
D004398:Dyneins