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: 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. Keywords :
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