How to Cite this Article: Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. 2012. Microtia: Epidemiology and genetics. Am J Med Genet Part A 158A:124–139.
Microtia: Epidemiology and genetics†
Article first published online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 124–139, January 2012
How to Cite
Luquetti, D. V., Heike, C. L., Hing, A. V., Cunningham, M. L. and Cox, T. C. (2012), Microtia: Epidemiology and genetics. Am. J. Med. Genet., 158A: 124–139. doi: 10.1002/ajmg.a.34352
- Issue published online: 19 DEC 2011
- Article first published online: 21 NOV 2011
- Manuscript Accepted: 12 SEP 2011
- Manuscript Received: 7 JUN 2011
- Seattle Children's Craniofacial Center Research Fellow grant
- craniofacial development;
- craniofacial microsomia;
- hemifacial microsomia;
- OAVS (oculo-auriculo-vertebral spectrum)
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude. © 2011 Wiley Periodicals, Inc.