Arhinia and Bilateral Anophthalmia: Report of a Rare Case and Review of Literature
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Abstract
Arhinia is an extremely rare condition reported in less than 100 cases so far. We report a case of arhinia with bilateral anophthalmia. In physical examination, only alar portions of the nose were partially formed. No septal, lower, upper lateral cartilages or nasal bones were detectable. Both nostrils were atretic. The orbital area was covered with skin and eyebrows were partially formed. Bilateral complete cleft lip and palate was evident. Surgical interventions should be considered not only for reconstruction of the external nose, but for timely creation of a lacrimal passage and repair of the accompanying cleft lip and palate.
1. Fuller AK, McCrary HC, Graham ME, Skirko JR. The Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations. Ann Otol Rhinol Laryngol 2020;129:645-8.
2. Akkuzu G, Akkuzu B, Aydin E, Derbent M, Ozluoglu L. Congenital partial arhinia: a case report. J Med Case Rep 1:97.
3. Albernaz VS, Castillo M, Mukherji SK, Ihmeidan IH. Congenital arhinia. AJNR Am J Neuroradiol 1996;17:1312-14.
4. Cusick W, Sullivan C, Rojas B, Poole A, Poole D. Prenatal diagnosis of total arhinia. Ultrasound Obstet Gynecol 2000;15:259-61.
5. Graham Jr JM, Lee J. Bosma arhinia microphthalmia syndrome. Am J Med Genet A 2006;140:189-93.
6. Bosma J, Henkin R, Christiansen R, Herdt J. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. J Craniofac Genet Dev Biol 1981;1:153-84.
7. Mondal U, Prasad R. Congenital arhinia: a rare case report and review of the literature. Indian J Otolaryngol Head Neck Surg 2016;68:537-9.
8. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet 2017;49:249-55.
9. Cesaretti C, Gentilin B, Bianchi V, Melloni G, Bonaguro M, Rossi C, et al. Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D, and POLR1C mutations. Clin Dysmorphol 2011;20:229-31.
10. Brusati R, Donati V, Marelli S, Ferrari M. Management of a case of arhinia. J Plast Reconstr Aesthet Surg 2009;62:e206-e10.
11. Alansari H, Fawzi A, Alshaikh R, Althawadi N, Janahi W, Alsaad I. Congenital Arhinia. Bahrain Med Bull 2018;40:251-3.
12. Qiang Z, Jin-zhi P, Quan L. Congenital arhinia of fetus: a case report. Tianjin Med J 2019;47:754.
13. Li X, Zhang L, Wang F. Prenatal diagnosis of total arhinia by MRI. Jpn J Radiol 2015;33:672-4.
14. Ali MJ, Singh S, Naik MN. Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. Orbit 2017;36:137-43.
15. Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhinia microphthalmia syndrome: clinical report and review of the literature. Am J Med Genet A 2016;170:1302-7.
16. Courtney J, Mccabe J, Craig S. Congenital arhinia. Arch Dis Child Fetal Neonatal Ed 2014;99:F75.
17. Feledy JA, Goodman CM, Taylor T, Stal S, Smith B, Hollier L. Vertical facial distraction in the treatment of arhinia. Plast Reconstr Surg 2004;113:2061-6.
18. Fernandes N, Van den Heever J, Sykes L, Kluge H. Nasal reconstruction of a patient with complete congenital arhinia: a clinical report. J Prosthet Dent 2016;116:924-7.
19. Goossens I, Kemp P, Bredell M, Sykes LM. Implant retained nasal prosthesis for a child with congenital arhinia-a case report. SADJ 2008;63:390-2.
20. Becerra-Solano LE, Chacón L, Morales-Mata D, Zenteno JC, Ramírez-Dueñas ML, García-Ortiz JE. Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. Clin Dysmorphol 2016;25:12-5.
21. Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, et al. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab 2020;105:1538-51.
22. Abulezz T. Congenital heminasal aplasia: clinical picture, radiological findings, and follow-up after early surgical intervention. J Craniofac Surg 2019;30:e199-202.
23. Altuntas Z, Uyar I, Yildirim MEC. A Rare Congenital Facial Abnormality: Complete Arhinia. Facial Plast Surg 2021;37:274.
2. Akkuzu G, Akkuzu B, Aydin E, Derbent M, Ozluoglu L. Congenital partial arhinia: a case report. J Med Case Rep 1:97.
3. Albernaz VS, Castillo M, Mukherji SK, Ihmeidan IH. Congenital arhinia. AJNR Am J Neuroradiol 1996;17:1312-14.
4. Cusick W, Sullivan C, Rojas B, Poole A, Poole D. Prenatal diagnosis of total arhinia. Ultrasound Obstet Gynecol 2000;15:259-61.
5. Graham Jr JM, Lee J. Bosma arhinia microphthalmia syndrome. Am J Med Genet A 2006;140:189-93.
6. Bosma J, Henkin R, Christiansen R, Herdt J. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. J Craniofac Genet Dev Biol 1981;1:153-84.
7. Mondal U, Prasad R. Congenital arhinia: a rare case report and review of the literature. Indian J Otolaryngol Head Neck Surg 2016;68:537-9.
8. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet 2017;49:249-55.
9. Cesaretti C, Gentilin B, Bianchi V, Melloni G, Bonaguro M, Rossi C, et al. Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D, and POLR1C mutations. Clin Dysmorphol 2011;20:229-31.
10. Brusati R, Donati V, Marelli S, Ferrari M. Management of a case of arhinia. J Plast Reconstr Aesthet Surg 2009;62:e206-e10.
11. Alansari H, Fawzi A, Alshaikh R, Althawadi N, Janahi W, Alsaad I. Congenital Arhinia. Bahrain Med Bull 2018;40:251-3.
12. Qiang Z, Jin-zhi P, Quan L. Congenital arhinia of fetus: a case report. Tianjin Med J 2019;47:754.
13. Li X, Zhang L, Wang F. Prenatal diagnosis of total arhinia by MRI. Jpn J Radiol 2015;33:672-4.
14. Ali MJ, Singh S, Naik MN. Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. Orbit 2017;36:137-43.
15. Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhinia microphthalmia syndrome: clinical report and review of the literature. Am J Med Genet A 2016;170:1302-7.
16. Courtney J, Mccabe J, Craig S. Congenital arhinia. Arch Dis Child Fetal Neonatal Ed 2014;99:F75.
17. Feledy JA, Goodman CM, Taylor T, Stal S, Smith B, Hollier L. Vertical facial distraction in the treatment of arhinia. Plast Reconstr Surg 2004;113:2061-6.
18. Fernandes N, Van den Heever J, Sykes L, Kluge H. Nasal reconstruction of a patient with complete congenital arhinia: a clinical report. J Prosthet Dent 2016;116:924-7.
19. Goossens I, Kemp P, Bredell M, Sykes LM. Implant retained nasal prosthesis for a child with congenital arhinia-a case report. SADJ 2008;63:390-2.
20. Becerra-Solano LE, Chacón L, Morales-Mata D, Zenteno JC, Ramírez-Dueñas ML, García-Ortiz JE. Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. Clin Dysmorphol 2016;25:12-5.
21. Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, et al. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab 2020;105:1538-51.
22. Abulezz T. Congenital heminasal aplasia: clinical picture, radiological findings, and follow-up after early surgical intervention. J Craniofac Surg 2019;30:e199-202.
23. Altuntas Z, Uyar I, Yildirim MEC. A Rare Congenital Facial Abnormality: Complete Arhinia. Facial Plast Surg 2021;37:274.
| Files | ||
| Issue | Vol 59, No 10 (2021) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/acta.v59i10.7771 | |
| Keywords | ||
| Arhinia Anophthalmia Cleft lip | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Golpayegani G, Jafari M, Karimi A. Arhinia and Bilateral Anophthalmia: Report of a Rare Case and Review of Literature. Acta Med Iran. 2021;59(10):621-624.
