title: [Immotile cilia syndrome. Presentation of 3 cases].
abstract: Immotile cilia syndrome is an uncommon disorder, with an autosomal recessive mode of inheritance; the incidence is about 1/25,000 and is a cause of chronic disease of both upper and lower airways, male infertility and, in 50%, situs inversus totalis. It's pathogenesis lies in a variety of genetically determined alteration of ciliary ultrastructure. We report three cases, two in siblings, who had a typical syndrome, all of them with situs inversus totalis (Kartagener syndrome), chronic nasal symptoms, sinusitis and serous otitis with hearing loss. Two had recurrent productive cough with chest X-ray changes suggestive of bronchiectasis. The diagnosis was established in two by bronchial biopsy, showing complete and partial dynein deficiency respectively. In the third case it was based an clinical grounds and familial history. All three children are doing well up to now.
mesh_terms: D000293:Adolescent; D000818:Animals; D002648:Child; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D016798:Ciliophora / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000209:etiology; D008297:Male
vernacular_title: Síndrome de los cilios inmóviles. Presentación de tres casos.