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

Abstract

Background: Kartagener’s syndrome is a rare autosomal recessive disorder characterized by the triad of bronchiectasis, chronic sinusitis, and situs inversus due to defective motile cilia. Occasionally, ectodermal anomalies such as hair, nail, and dental abnormalities coexist, reflecting involvement of ectodermal structures. the present report is written for the purpose of reminding readers of this rare and severe situation and to emphasize the necessity for further research on how to deal with in best.

Case Presentation: A 17-year-old female presented with recurrent productive cough since childhood, progressive hearing loss, delayed eruption of permanent teeth, patchy alopecia, and dystrophic nails. Imaging revealed dextrocardia and bilateral bronchiectasis. Sweating and secondary sexual characteristics were normal. The constellation of findings suggested Kartagener’s syndrome with associated ectodermal anomalies.

Conclusion : This represents a rare overlap of Kartagener syndrome with ectodermal anomalies (Alopecia, dental agenesis, micronychia). Genetic testing is warranted to determine whether this represents a dual diagnosis or a novel syndromic variant.

JCMCTA 2025 ; 36 (2) : 173-177