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arhinia

Tuesday 24 April 2007

Definition: Congenital arhinia is the complete absence of the nose.

Synopsis

- complete absence of the nose
- complete airway obstruction

Associations

- hypertelorism (15372519)
- microphthalmia (15372519)
- high-arched palate (15372519)
- hypoplasia of the auditory canal and mastoid and facial bones (15372519)
- absence of olfactory bulbs and tracts (15372519)
- unilateral absence of orbit (1841889)
- alobar holoprosencephaly

Etiology

- isolated arhinia
- associated arhinia

Cytogenetics

- t(3;12)(q13.2;p11.2) (17304554, 15372519)

  • deletion spanning from 3q11.2 to 3q13.31 (17304554)

Case records

- complete arhinia in alobar holoprosencephaly (Case 11373)

See also

- craniofacial malformations

  • facial malformations
    • nasal malformations
    • facial midline malformations

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