Kartagener Syndrome With Ectodermal Anomalies in an Adolescent Female: A Case Report

    Nadia Ireen Chowdhury, Farhana Akter, Shaila Afrin, Ismat Ara Tithi, Halima Tus Sadia, Md. Faruq
    Studysummary This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    This case report discusses a 17-year-old female with Kartagener’s syndrome, a rare autosomal recessive disorder characterized by bronchiectasis, chronic sinusitis, and situs inversus, alongside ectodermal anomalies such as patchy alopecia, dental agenesis, and dystrophic nails. The patient exhibited symptoms including recurrent productive cough, progressive hearing loss, and delayed eruption of permanent teeth. Imaging confirmed dextrocardia and bilateral bronchiectasis. The report highlights the need for genetic testing to determine if this case represents a dual diagnosis or a novel syndromic variant, emphasizing the rarity and complexity of the condition.
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