Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly

Takci S., Korkmaz A., Simsek-Kiper P. O., ÜTİNE G. E., BODUROĞLU O. K., YURDAKÖK M.

TURKISH JOURNAL OF PEDIATRICS, vol.54, no.4, pp.440-443, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 54 Issue: 4
  • Publication Date: 2012
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.440-443
  • Keywords: congenital arhinia, holoprosencephaly, central diabetes insipidus, atretic external auditory canal, DIAGNOSIS
  • Hacettepe University Affiliated: Yes

Abstract

Congenital arhinia is a rare condition characterized by the absence of the external nasal structures and nasal passages. Here, we report on a neonate with partial arhinia and holoprosencephaly presenting with respiratory insufficiency. During the clinical course, the infant developed pulmonary hypertension and central diabetes insipidus. While surgical management of these patients is still challenging, the presence of a highly skilled resuscitation team during delivery and postnatal multidisciplinary approach are mandatory.