[Ciliary immotility syndrome without situs inversus in 2 children].
The authors report two cases of immotile cilia syndrome occurring in two children without situs inversus. The two boys, 3 and 7 years old, had bronchiectasis, chronic sinusitis and recurrent upper airway infections. In the siblings, we found Kartagener's syndrome (sister of the first boy, and two sibs of the second). The diagnosis in the 2 cases was performed by study of ciliary motion in bronchial brushing. Ultrastructural examination of biopsies from bronchial mucosa showed specific defects of the axoneme.
D000293:Adolescent; D001987:Bronchiectasis / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000503:physiopathology* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications; D008297:Male; D001261:Pulmonary Atelectasis / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
Syndrome d'immotilité ciliaire chez deux enfants sans situs inversus.