The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 4
Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly
Units of 1Neonatology, and 2Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara,
Turkey. E-mail: pelinozlem@hacettepe.edu.tr
Complete or partial arhinia is a rare defect
of embryogenesis characterized by congenital
absence of the soft tissue of the nose and nasal
structures. It is generally associated with other
craniofacial or somatic anomalies, including
midline defects such as cleft palate, highly
arched palate, absence of paranasal sinuses,
and palatal and ocular abnormalities. Less than
40 patients with arhinia have been reported so
far[