Hazel Ann B David
University of Santo Tomas Hospital, Philippines
Posters & Accepted Abstracts: J Clin Case Rep
Kartagener syndrome (KS) is a genetic disease caused by defects of the structure and function of the cilia that leads to abnormal mucociliary clearance causing disease of the sinus and pulmonary regions. Kartagener syndrome is characterized by the triad of bronchiectasis, paranasal sinusitis and situs inversus totalis. The most common gene affected is DNAH5 which encodes ciliary dynein axonemal heavy chain. DNAH5 is linked to chromosome 5p which is the primary chromosome affected in Cri du chat syndrome. Here, we report a 7 month old Filipino female presenting with the common features of Cri du chat syndrome as well as situs inversus totalis, recurrent respiratory infections and bronchiectasis which point to a concomitant Kartagener syndrome.
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