Choanal atresia

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.

Lower eyelid coloboma

A short discontinuity of the margin of the lower eyelid.


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PMID (PMCID)
16523509
 MIXED_SAMPLE Infant
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA.
Am J Med Genet A. 2006;140(8):804-12.
Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags.