Primary ciliary dyskinesia in three siblings

Three siblings, a sister and two brothers, with primary ciliary dyksinesia are presented. The first brother had an increased number of ciliar per cell, shorter ciliary length, and absence of dinein arms in some cilia. There were significant disorders of peripheral pairs of the microtubulus and a sporadic lack of inner microtubular pairs. The second brother has typical Kartagener syndrome with improved (electron microscopy ) lack of inner dinein arms. The same disorder in the ciliar structure was found in the sister. These two siblings have a more severe clinical picture of the illness than the first brother. It is obvious that the clinical picture of primary ciliary dyskinesia depends upon the different ultrastructural disorder of the ciliar structure.