Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?
Congenital ciliary aplasia was demonstrated in two siblings with clinical history of primary ciliary dyskinesia. Ultrastructural histochemistry of successive bronchial biopsies revealed the predominance of immature mucous cells and the total absence of ciliated or preciliated cells in the respiratory epithelium. This original disorder may represent a unique variant of primary ciliary dyskinesia with primitive disregulation of ciliogenesis.
Richard
S
S
Hôpital des Enfants Malades, Paris, France.
Nezelof
C
C
Pfister
A
A
de Blic
J
J
Scheinmann
P
P
Paupe
J
J
D001706:Biopsy; D001980:Bronchi / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D001982:Bronchial Diseases / Q000151:congenital / Q000175:diagnosis / Q000473:pathology*; D002648:Child; D002923:Cilia / Q000378:metabolism; D002925:Ciliary Motility Disorders / Q000151:congenital* / Q000473:pathology; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009092:Mucous Membrane / Q000473:pathology / Q000648:ultrastructure