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[Microtia-atresia: clinical, genetic and genomic aspects]
Mónica Aguinaga-Ríos1, Sara Frías2, Diego J Arenas-Aranda3
1Departamento de Genética y Genómica Humana, Instituto Nacional de Perinatología, México, D.F., México.
Abstract:
Mexico has a prevalence of microtia of 7.37/10,000 (newborns), 3 times higher than the prevalence reported in other populations (USA 2-3/10,000). Microtia is defined as a congenital malformation of the external ear characterized by a small auricular lobe with an abnormal shape. It is more often unilateral and on the right side. Males are more frequently affected than females. It can occur as an isolated defect or can be associated with other abnormalities such as stenosis of the external auditory canal. In three of the main pediatric hospitals in Mexico, microtia is among the most important causes of attendance in the Genetics Department. Microtia-atresia must be considered as a major malformation with important repercussions in hearing function requiring multidisciplinary medical care in order to limit the disability associated and to provide genetic counseling. Its etiology is complex. Only in a minor number of cases it has been possible to identify a main genetic component (as in monogenic presentations) or a main environmental cause (as in fetal alcohol syndrome or pregestational diabetes). In most cases this malformation is multifactorial. Due to the relevance that the frequency of microtia atresia has in different health services in Mexico, it is important that all medical professionals are aware of its clinical, molecular and inherited characteristics.
Insights
Mexico reports a high prevalence of microtia, a congenital ear malformation, affecting 7.37/10,000 newborns. This condition requires multidisciplinary care due to its impact on hearing and potential genetic links.
Area of Science:
- Medical Genetics
- Pediatric Malformations
- Otolaryngology
Context:
- Mexico exhibits a significantly higher prevalence of microtia (7.37/10,000 newborns) compared to other global populations.
- Microtia, a congenital external ear malformation, is a leading cause of visits to Genetics Departments in major Mexican pediatric hospitals.
- The condition often presents unilaterally, predominantly on the right side, and affects males more than females.
Purpose:
- To highlight the elevated prevalence of microtia in Mexico.
- To underscore the clinical significance and multidisciplinary care requirements for microtia-atresia.
- To emphasize the need for medical professionals to understand the clinical, molecular, and inherited characteristics of microtia.
Summary:
- Microtia is a congenital ear defect characterized by an abnormally small and misshapen auricle, often associated with external auditory canal stenosis.
- The etiology of microtia-atresia is complex and typically multifactorial, with genetic or environmental factors identified in a minority of cases.
- Effective management necessitates a multidisciplinary approach, focusing on mitigating hearing loss and providing genetic counseling.
Impact:
- Increased awareness among healthcare professionals regarding microtia's prevalence and characteristics in Mexico.
- Improved patient outcomes through timely diagnosis and comprehensive, multidisciplinary management strategies.
- Enhanced genetic counseling and understanding of the complex etiology, aiding in risk assessment for affected families.
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