Primary Ciliary Dyskinesia Demonstrating Atypical Presentation of Kartagener's Syndrome

Correlation of presentation and pathologic condition in primary ciliary dyskinesia.

OBJECTIVES To better characterize primary ciliary dyskinesia (PCD) and improve the diagnosis of this uncommon disorder. STUDY DESIGN AND SETTING We retrospectively reviewed the records of 118 patients with ciliary biopsy or brushing specimens examined at Yale University School of Medicine from 1991 to 2001. RESULTS Sinonasal, middle ear, and pulmonary infections were more common in patients...

Primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....

[Primary ciliary dyskinesia].

Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is caused by ultrastructural ciliary defects that lead to abnormal ciliary beating and, subsequently, mucociliary dysfunction. PCD presents clinically with bronchiectasis, sinusitis, and, in up to 50% of cases, situs inversus. The ultrastructural defects of cilia are diverse but include in many cases outer and/or inner dynein arms. Recent advances have shown tha...

Primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed. The usual clinical picture is of recurrent upper and lower respiratory symptoms (rhinitis, glue ear, recurrent cough and spu...