Ciliary Dyskinesia With Transposition Of Ciliary Microtubules

In the course of studies of children with respiratory disease, Sturgess et al. (1980) identified a brother and sister, aged 22 and 19 years, respectively, with chronic sinopulmonary disease and transposition of the number 1 doublet microtubule. The anatomic defect was present in the nasal and bronchial cilia of both subjects and the sperm of the male. Since some motility of cilia was retained (as is true in dynein-defective cilia), the authors suggested ciliary dyskinesia as a designation alternative to 'immotile cilia syndrome.' See CILD1 (244400).