Congenital absence of the nose: a case report and literature review

Abstract

A case of congenital absence of the nose is presented. The etiology of this rare condition is unknown. A review of the literature reveals that the previously applied terms, e.g. 'arhinia', are unclear. In the reviewed cases there seems to be a pattern of facial anomalies associated with nasal absence. In most cases, one could probably expect a lack of the olfactory bulbs and tracts. We suggest a new terminology and summarize the aims of the radiological evaluation of this condition.

Antenatal Diagnosis of Isolated Total Arhinia in the Second Trimester of Pregnancy

“…A second ultrasound was offered at 22 weeks and the anomaly was then diagnosed. In the case by Olsen [3], the patient had an ultrasound at 17 weeks reporting diffuse midfacial anomalies with edema. The absence of the external nose was diagnosed at 25 weeks.…”

Congenital Arhinia: A Rare Case Report and Review of Literature

“…This also secondarily leads to failure of development of olfactory bulb and tract. Failure of absorption of nasal epithelial plug during 13-15th weeks of gestation, premature fusion of medial nasal prominences and migration defect of neural crest cells have also been proposed in the pathogenesis of arhinia [4].…”

Congenital arhinia: Molecular‐genetic analysis of five patients

“…Congenital arhinia is often associated with microphthalmia, choanal atresia, and/or cleft palate [Graham and Lee, 2006]. To the best of our knowledge, only 36 cases of arhinia have been reported [Ruprecht and Majewski, 1978;Kaminker et al, 1985;Cohen and Goitein, 1986;Sakai et al, 1989;Galetti et al, 1994;Onizuka et al, 1995;Thiele et al, 1996;Choi et al, 1998;Cusick et al, 2000;Olsen et al, 2001;McGlone, 2003;Hou, 2004;Jules et al, 2004;Mathur et al, 2005;Shino et al, 2005;Graham and Lee, 2006]. Most cases were sporadic, but two familial cases were also reported [Ruprecht and Majewski, 1978;Thiele et al, 1996].…”