title: Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Sahin
authors.initials: S
authors.lastname: Takcı
authors.forename: Ayşe
authors.initials: A
authors.lastname: Korkmaz
authors.forename: Pelin Ozlem
authors.initials: PO
authors.lastname: Simşek-Kiper
authors.forename: Gülen Eda
authors.initials: GE
authors.lastname: Utine
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: Murat
authors.initials: M
authors.lastname: Yurdakök
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000601:surgery; D003919:Diabetes Insipidus / Q000175:diagnosis; D003952:Diagnostic Imaging; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities / Q000601:surgery