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.
Bautista-Harris
G
G
Departamento de Morfología, Hospital de Gran Canaria Dr. Negrín, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Canary Islands, Spain.
Julià-Serdà
G
G
Rodríguez de Castro
F
F
Santana-Benitez
I
I
Cabrera-Navarro
P
P
D000328:Adult; D001980:Bronchi / Q000473:pathology; D001991:Bronchitis / Q000235:genetics* / Q000473:pathology*; D002908:Chronic Disease; D002923:Cilia / Q000473:pathology*; D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000473:pathology*; D014132:Trachea / Q000473:pathology