Introduction: Congenital аural аtresia (CAA) can occur as an isolated congenital malformation or as part of a monogenic and chromosomal syndromes. CAA can be associated with several syndromes. An 18q deletion is frequently seen in CAA. The subject of the study are three individuals from one family (mother, son and daughter). Methods:After taking a detailed history, an examination of ENT organs, tone audiometry testing, auditory brain stem responses, brain CT, external auditory canal and middle ear were performed. Results: The conducted tone audiometry testing and auditory brain stem response found bilateral sound conduction hearing loss.
Conclusion: Bilateral atresia is treated surgically. Surgical treatment is difficult and not always successful, it is preferable to perform it at age 4-5.
Al-Qahtani Khalid, FRCS , Mohammed Aleisa, MD , Ahdi Albader, MD ,Vale ́rie J. Brousseau, MDCM , Mary Lessard, FRCSC b, Melan Schloss, FRCSC and Tahera Islam, MD. External auditory canal atresia: Surgical correction compared with bone anchored hearing devic. Journal of Taibah University Medical Sciences Volume 9, Issue 4, December 2014, Pages 307-310. DOI: 10.1016/j.jtumed.2014.05.005
Feenstra Ilse, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map American Journal of Medical Genetic 13 July 2007. https://doi.org/10.1002/ajmg.a.31850
Jacob R, S. Gupta, B. Isaacson, J.W. Kutz, Jr,b P. Roland, Y. Xi, and T.N. Booth High-Resolution CT Findings in Children with a Normal Pinna or Grade I Microtia and Unilateral Mild Stenosis of the External Auditory Canal Author information Article notes Copyright and License information Disclaimer AJNR Am J Neuroradiol. 2015 Jan; 36(1): 176–180. doi:10.3174/ajnr.A4067
Nguyen V.T, Paek G. Hu J. Presurgical CT Evalution on Congenital Aural Atresia. North Health Journal Articles 2015. https://academicworks.medicine.hofstra.edu/articles
Shah K, Knight B, Shermetaro C. External Ear Aural Atresia Publication Details
Yellon Robert F.Congenital external auditory canal stenosis and partial atretic plate Internacional of Journal of Pediatric Otorhinolaryngology Volume 73, Issue 11, November 2009, Pages 1545-1549. https://doi.org/10.1016/j.ijporl.2009.07.021
