Nasal bone agenesis: Case report
DOI:
https://doi.org/10.33448/rsd-v14i10.49703Keywords:
Craniofacial abnormalities, Nasal bone, Nose.Abstract
Nasal bone agenesis is a rare condition with uncertain causes, characterized by the congenital absence of the nasal bone and may be associated with several syndromes and significant facial malformations. Given the rarity of the condition, this study aims to describe a case of nasal arrhinia identified at the Alzira Velano University Hospital, contributing to research and understanding of the diagnosis, treatment, and follow-up of arrhinia. The condition was diagnosed intrauterinely through fetal ultrasound. At birth, the physical examination revealed the absence of the nasal bone, as well as alterations in the adjacent structures. Imaging tests, such as radiography and computed tomography of the face, were requested to better understand the bone and tissue involvement. The proposed treatment involved a multidisciplinary team, with referral to the otorhinolaryngology and speech-language pathology services. A subsequent discussion and literature review on nasal bone agenesis were conducted, focusing on diagnostic challenges and possible current therapies. This work highlights the importance of early diagnosis for adequate management of the condition in a multidisciplinary manner, with the aim of providing a better quality of life to the patient, in addition to emphasizing the need for further studies to better understand this rare craniofacial malformation.
References
Abukhalaf, S. A. et al. (2020). Congenital arrhinia: a case report and literature review. International Journal of Pediatric Otorhinolaryngology. 135, 110083.
Castro, P. T. et al. (2025) Isolated congenital arrhinia: fetal magnetic resonance imaging and pediatric computed tomography 3D reconstructions, long-term follow-up and review of the literature. Journal of Clinical Ultrasound. 53(1), 202-6.
Cicero, S., Curcio, P., Papageorghiou, A., Sonek, J. & Nicolaides, K. (2001). Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. The Lancet. 358(9294), 1665-7.
Cohen, D. & Goitein, K. (1987). Arhinia revisited. Rinology. 25, 237.
Cong, N. V. et al. (2023). Bosma Arhinia Microphtahalmia Syndrome (BAMS): First report from Vietnam. .
Cureus. 15(2):e35222. doi: 10.7759/cureus.35222.
Du, Y., Ren, Y., Yan, Y. & Cao, L. (2018). Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women. Acta Obstetricia et Gynecologica Scandinavica. 97(2), 180–6.
El-Dessouky, S. H. et al. (2020). Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenatal Diagnosis. 40(5), 565-76.
Gu, Y. Z., Nisbet, D. L., Reidy, K. L. & Palma-Dias, R. (2019). Hypoplastic nasal bone: a potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray. Prenatal Diagnosis. 39(2), 116–23.
Harrison, L. M. et al. (2022). Reconstruction of congenital arhinia with stereolithographic modeling: case correlate and literature review. Cleft Palate-Craniofacial Journal. 59(4), 530-7.
Marszalek-Kruk, B. A. et al. (2021). Treacher Collins Syndrome: genetics, clinical features and management. Genes (Basel). 12(9), 1392.
Moore, K. L., Persaud, T. V. N. & Torchia, M. G. (2022). Embriologia clínica. (10.ed). Editora Guanabara Koogan. p. 107-8.
Ng, R. L., Rajapathy, K. & Ishak, Z. (2017). Congenital arhinia – first published case in Malaysia. The Medical Journal of Malaysia. 72(5), 308-10.
Pereira, A. S. et al. (2018). Metodologia da pesquisa científica. [free ebook]. Santa Maria. Editora da UFSM.
Ribeiro, R. et al. (2015). Prenatal diagnosis of arhinia: case report. Acta Obstétrica e Ginecológica Portuguesa. 9(4), 305-9.
Sadler, T. W. (2013). Langman: embriologia médica. (12.ed). Editora Guanabara Koogan.
Zemtsov, G. E. et al. (2022). Prenatal diagnosis of arhinia. AJP Reports. 12(2), 127-130.
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Copyright (c) 2025 Natally Macedo Torrente, Annie Beatriz de Carvalho, Julia Andrade Pereira
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