Distinguishing Isolated From Familial Microtia: Demographic, Clinical, and Anatomical Insights From Ecuador
Fabricio González-Andrade, Fausto Coello, Pamela Estefanía Ortiz-Campoverde, Henry Vásconez, Gabriela Aguinaga-RomeroBackground:
Microtia is a congenital defect of the external ear, ranging from structural auricular deficiency to anotia, and is frequently associated with hearing impairment. Its prevalence varies geographically, with notably higher rates reported in high-altitude regions of Ecuador. However, clinical, and anatomical comparisons between isolated and familial microtia in Ecuador remain limited.
Objective:
To analyze the demographic, clinical, and anatomical characteristics of Ecuadorian patients with microtia, emphasizing differences between isolated and familial cases.
Methods:
A cross-sectional observational study was conducted in 2024, including 146 patients with confirmed microtia. Patients were classified as isolated or familial according to family history. Demographic, clinical, anatomical, and audiological variables were collected. Minor auricular findings, including auricular nodules, preauricular sinus, Darwin tubercle, and prominent ear, were recorded separately as associated anatomical observations and were not considered diagnostic criteria or severity indicators. Data were analyzed using descriptive statistics, chi-square, and Mann-Whitney tests, and multivariate logistic regression.
Results:
Median age was 10 years (IQR 8-14), with no significant age differences between groups. Isolated microtia was more frequent in males than familial microtia (72.32% vs 52.94%;
Conclusion:
Isolated and familial microtia showed distinct demographic and anatomical patterns. Auricular nodules were associated with isolated microtia but should be interpreted as associated anatomical findings, not diagnostic or severity markers.