Case Report of International Journal of Case Reports
Congenital Bilateral Microtia-Anotia: A Clinical Challenge
Dr Sumita Mehta1*, Senior Specialist & In-Charge, Dr Anshul Grover1, Specialist, Dr Avdesh Mehta 2, ENT Consultant, Dr Deepak Chugh3, CMO & Head of Department, Paediatrics
1Dept. of Obstetrics & Gynecology, Babu Jagjivanram Memorial Hospital, Delhi, India. 2Medhealers Clinic, Delhi, India. 3Dept. of Pediatrics, Babu Jagjivanram Memorial Hospital, Delhi, India.
Microtia- Anotia (M-A) is a rare congenital malformation of the external ear structure commonly associated with atresia or stenosis of the ear canal. Its prevalence is more common in Asians and Hispanics, is generally unilateral and is seen more commonly in males. It can either be an isolated defect or be a part of specific pattern of anomalies involving other organs. It has been documented as a component of either a teratogenic embryopathy (isotretinoin, thalidomide or alcohol) or single gene disorders like Treacher Collins and as a part of a pattern of multiple defects like Goldenhar, Nager and CHARGE syndrome. We report a case of a newborn with bilateral microtia-anotia and facial palsy, who on further evaluation was found to have congenital heart disease also. The triad of anotia, facial paralysis and cardiac anomaly is rare and has been first described by Pearl in 1984.Thus, the obviously visible ear malformation at birth should be evaluated in depth to rule out other underlying malformations.
Keywords: microtia, anotia, Pearl syndrome, Goldenhar syndrome, lower motor neuron facial palsy, Treacher Collins syndrome, Nager syndrome, CHARGE syndrome
How to cite this article:
Sumita Mehta, Anshul Grover, Avdesh Mehta, Deepak Chugh. Congenital Bilateral Microtia-Anotia: A Clinical Challenge. International Journal of Case Reports, 2021; 5:221. DOI: 10.28933/ijcr-2021-05-2506
1. Bartel-Friedrich S. Congenital Auricular Malfor-mations: Description of Anomalies and Syn-dromes. Facial Plast Surg. 2015; 31(6):567-80.
2. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: epidemiology and genetics. Am J Med Genet A. 2012; 158A (1):124-139.
3. Kaur, M, Kaura, S, Sharma, A & Showkat R. (2020). Restoration of Microtia by Prosthetic Method: A Case Report. European Journal of Medical and Health Science 2020; 2(4). https://doi.org/10.24018/ejmed.2020.2.4.
4. Garstecka A, Betlejewski S, Skonieczka K. Mi-crotia: isolated defect of hearing organ, or syn-drome forming collection of abnormalities. Oto-laryngol Pol. 2008; 62(5):639-42.
5. Kini S, Barton GW, Carol Liu YC. Renal anomalies
and microtia: determining the clinical utility of screening affected children. Int J Pediatr Otorhi-nolaryngol. 2020 Jun. 133:109957.
6. Ryan MA, Olshan AF, Canfield MA, et al. Socio-demographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study. Int J Pediatr Otorhinolaryngol. 2019 Mar 23. 122:18-26.
7. Kumar S, Ujlayan V, Singh JK, Jha C. Pearl syn-drome with Jacob syndrome: A rare association. IJSR 2019; 8(8):25-26.
8. Lenz W. A short history of thalidomide embryo-pathy. Teratology 1988 Sep; 38(3):203-15.
9. Martelli H Jr, Miranda RT, Fernandes CM, et al. Goldenhar syndrome: clinical features with oro-facial emphasis. J Appl Oral Sci. 2010; 18(6):646-649.
10. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008; 14(1):3-10.
11. Chang CC, Steinbacher DM. Treacher collins syndrome. Semin Plast Surg. 2012; 26(2):83-90.
12. Ju-Li-Lin. Nager syndrome: A case report. Pedi-atrics and Neonatology 2012;53(2);147-150.
13. van Ravenswaaij-Arts CM, Hefner M, Blake K, et al. CHD7 Disorder. 2006 Oct 2 [Updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1117/