Absence of central microtubules and transposition in the ciliary apparatus of three siblings.

We studied the cases of three siblings with a history of chronic bronchitis and infertility. The electron-microscopic investigation of the tracheal and bronchial biopsies showed a ciliary defect consisting in the absence of the central microtubules and the transposition of a peripheral doublet. This is a rare and infrequently reported abnormality included in the primary ciliary diskinesia syndrome.