Description

Kartagener Syndrome consists of primary ciliary dyskinesia together with a number of sinopulmonary and visceral findings.


 

Ciliary motility depends on a number of proteins and so the syndrome may be heterogeneous.

 

Inheritance is usually autosomal recessive.

 

Key clinical findings in Kartagener Syndrome:

(1) primary ciliary dyskinesia

(2) situs inversus viscerum

(3) recurrent sinusitis

(4) recurrent respiratory infections including bronchitis, potentially progressing to bronchiectasis

(5) variable reproductive defects

(5a) infertility or subfertility in males, with oligo- or azoospermia and reduced motility

(5b) normal to reduced fertility in females

 

Additional findings may include:

(1) nasal polyposis

(2) agenesis of the frontal sinuses

(3) recurrent otitis

(4) neonatal asphyxia

 


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