We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia-associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present. Diseases that affect cilia became recently the object of considerable interest. Disturbed ciliary function underlies some human diseases of the brain, retina, respiratory system, liver, and kidney although their pathophysiology is incompletely understood.
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