Congenital arhinia: a case report and functional evaluation.

OBJECTIVES

Congenital arhinia is rare clinical entity. An unusual case of congenital arhinia with no surgical treatment is presented.

STUDY

DESIGN

Case report.

METHODS

A 9-year-old with congenital arhinia was referred for treatment of otitis media with effusion. In addition to his undergoing imaging studies since birth, various functional evaluations regarding the nose were performed. Furthermore, the pathogenesis of arhinia is discussed.

RESULTS

The imaging workup revealed the absence of nasal bones, the nasal septum, and turbinates, hypoxia of the maxilla, and a high-arched palate. Furthermore, magnetic resonance imaging clearly demonstrated the absence of olfactory bulbs and tracts, resulting in no response with olfactometry. Among the examinations performed, chromosomal analysis, polysomnography, and an intelligence test produced normal results. In the hearing assessment, he had a slight conductive hearing loss. A phonetic examination revealed the typical pattern of rhinophonia clausa.

CONCLUSIONS

This study presents congenital arhinia associated with facial anomalies. Because there was no life-threatening complications and normal psychomotor development, the patient could not only be followed up long-term but could also have his nose functionally evaluated. It is highly likely that this case might have been the result of the failure of medial and lateral nasal processes to grow, which was the underlying pathogenesis.