scholarly journals Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes

2015 ◽  
Vol 16 (1) ◽  
pp. 95-99 ◽  
Author(s):  
Makia J. Marafie ◽  
Ibrahim S. Al Suliman ◽  
Abdullah M. Redha ◽  
Abdulrahman M. Alshati
Keyword(s):  
Gene Mutation ◽  
Primary Ciliary Dyskinesia ◽  
Kartagener Syndrome ◽  
Ciliary Dyskinesia

scholarly journals Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation

Lung India ◽  
2020 ◽  
Vol 37 (2) ◽  
pp. 179
Author(s):  
AntonyTerance Benjamin ◽  
Ram Ganesh ◽  
Jagdish Chinnappa ◽  
Ilin Kinimi ◽  
Jane Lucas
Keyword(s):  
Gene Mutation ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

2019 ◽  
Vol 86 (7) ◽  
pp. 664-665 ◽  
Author(s):  
Antony Terance Benjamin ◽  
Ram Ganesh ◽  
Balan Louis Gaspar ◽  
Jane Lucas ◽  
Claire Jackson ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia

1999 ◽  
Vol 64 (1) ◽  
pp. 313-317 ◽  
Author(s):  
Michal Witt ◽  
Yue-fen Wang ◽  
Shengbiao Wang ◽  
Cui-e Sun ◽  
Jacek Pawlik ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Chromosome 7 ◽  
Kartagener Syndrome ◽  
Ciliary Dyskinesia

Presence of Kartagener syndrome reduces exercise capacity in primary ciliary dyskinesia

2016 ◽  
Author(s):  
Deniz Inal Ince ◽  
Senem Simsek ◽  
Melda Saglam ◽  
Hazal Sonbahar-Ulu ◽  
Aslihan Cakmak ◽  
...  
Keyword(s):  
Exercise Capacity ◽  
Primary Ciliary Dyskinesia ◽  
Kartagener Syndrome ◽  
Ciliary Dyskinesia

scholarly journals Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

2010 ◽  
Vol 11 (1) ◽  
Author(s):  
Ewa Ziętkiewicz ◽  
Barbara Nitka ◽  
Katarzyna Voelkel ◽  
Urszula Skrzypczak ◽  
Zuzanna Bukowy ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Primary Ciliary Dyskinesia ◽  
Mutation Spectrum ◽  
Ciliary Dyskinesia

scholarly journals Kartagener’s Syndrome Presenting As Bilateral Recurrent Nasal Polyposis In A Young Boy

2018 ◽  
Vol 08 (04) ◽  
pp. 274-277
Author(s):  
Zeba Ahmed ◽  
Warda Waseem ◽  
Uroosa Saman
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Polyposis ◽  
Chronic Sinusitis ◽  
Correct Diagnosis ◽  
Congenital Disease ◽  
Kartagener Syndrome ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia ◽  
Recurrent Nasal Polyposis

Kartagener's syndrome is a very rare congenital disease consists of a classic triad, sinusitis, situs inversus and bronchiectasis. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and Kartagener syndrome. We are presenting a case of Kartagener’s syndrome in a 10-year-old boy presented with chronic sinusitis leading to bilateral multiple nasal polyposis. He also had situs inversus and chronic bronchiectasis. He had undergone surgery two years back for nasal polyposis but now again presenting as recurrent nasal polyposis. In order to prevent the dreadful complications correct diagnosis in early life is very important in such patients.

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