Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly
Takcı, S.; Korkmaz, A.şe.; Simşek-Kiper, P.O.; Utine, G.ül.E.; Boduroğlu, K.; Yurdakök, M.
Turkish Journal of Pediatrics 54(4): 440-443
2012
ISSN/ISBN: 0041-4301 PMID: 23692731 Document Number: 660185
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[],[]. We report herein on a patient with partial arhinia and holoprosencephaly presenting with respiratory insufficiency and diabetes insipidus.