Ciliary dyskinesis: the immotile cilia syndrome.
In the past 5 years much has been learned about the syndrome of ciliary dyskinesia, commonly referred to as immotile cilia syndrome. This syndrome appears to be a congenital defect in the ultrastructure of the cilia, which results in one of three basic defects; lack of dynein arms, absence of radial spokes, or transposition of microtubules. Three cases are presented with electron micrographs; they illustrate the diverse clinical presentations of this disease entity as well as some of the structural abnormalities. The normal and abnormal anatomy of the cilia is discussed and some explanation is offered as to why these structural abnormalities present with such a variety of clinical expressions.
D000328:Adult; D002648:Child; D002923:Cilia / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008870:Microtubules / Q000648:ultrastructure; D009297:Nasal Mucosa / Q000648:ultrastructure; D012140:Respiratory Tract Diseases / Q000151:congenital / Q000473:pathology* / Q000628:therapy; D013577:Syndrome; D014420:Turbinates / Q000473:pathology