Kartagener Syndrome: A Rare Genetic Disorder
نویسندگان
چکیده
منابع مشابه
Kartagener syndrome: a not so rare phenomenon.
BACKGROUND Kartagener Syndrome is characterized by ciliary dyskinesia and is inherited in autosomal recessive manner. It occurs in 1:20,000-30,000 live births in general population. Its prevalence varies from region to region. METHODS This case series describes four patients of Kartagener Syndrome who were diagnosed in the departments of medicine and pulmonology between year 2009 and 2013. ...
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Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the b...
متن کاملKartagener syndrome
Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tes...
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Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis. This study reports a rare case of KS for having further awareness of this disease. According to this study, this disease should be considered in patients with recurrent respiratory ...
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ژورنال
عنوان ژورنال: Journal of Nepal Medical Association
سال: 2009
ISSN: 1815-672X,0028-2715
DOI: 10.31729/jnma.206