Congenital arrhinia: A case report and literature review. Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated
cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube
-24Fifth SenseLosee JE, Kirschner RE, Whitaker LA, et al; Congenital nasal anomalies: a classification scheme. Plast Reconstr Surg. 2004 Feb113(2):676-89.Tessier P, Ciminello FS, Wolfe SA; The Arrhinias. Scand J Plast Reconstr Surg Hand Surg. 200943(4):177-96.McGlone L; Congenital arhinia. J Paediatr Child Health. 2003 Aug39(6):474-6.Burrow TA, Saal HM, de Alarcon A, et al; Characterization of congenital
slaughtered immediately after birth due to severe respiratory distress by the owner. The calf showed multiple birth defects, including synophthalmia, holoprosencephaly, absence of optic chiasma, hypoplastic maxilla, curved mandibles, arrhinia and dental pad agenesis. A normal tongue protruded from the defect and small oral cavity. To our knowledge, this particular combination of craniofacial defects has
posteriorly angulated ears. Cytogenetic analysis showed mosaic trisomy 9 with 17% trisomic cells. Pathology confirmed lobar HPE. In literature, isolated arrhinia, related to the HPE spectrum, was reported in one case of mosaic trisomy 9. Our case raises the question of the causative role of trisomy 9 in full blown HPE.