Fabricio González-Andrade, Fausto Coello, Edwin Andrade, Henry Vásconez
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引用次数: 0
Abstract
Background
Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right-ear predominance and conductive hearing loss are well-documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.
Objective
To compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.
Methods
A cross-sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure-tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi-square tests (p < 0.05).
Results
Right-ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.
Conclusion
Microtia is most commonly right-sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource-limited settings.
期刊介绍:
The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks.
Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.