CHOANAL ATRESIA


Choanal atresia occurs in one of every 5000–8000 live
births. It affects females twice as often as males, and
unilateral atresia is twice as common as bilateral atresia.
Increased rates of choanal atresia have been suggested in
patients with a history of in utero exposure to methimazole;
this exposure can also lead to other malformations,
including esophageal atresia and developmental delay.
Most cases of choanal atresia are sporadic, although
familial cases suggest autosomal dominant or autosomal
recessive modes of a single gene defect. Approximately
one-half to two-thirds of patients with choanal atresia
have associated malformations, which occur more frequently
with bilateral atresia. The most common of
these is the CHARGE association:
Coloboma of the eye
Heart malformations
Choanal Atresia
Retarded growth, development, or both
Genital hypoplasia
Ear malformations, deafness, or both
Choanal atresia is associated with as many as 20
other syndromes; other common coexisting malformations
include polydactyly, tracheoesophageal fistula,
craniosynostosis, high arched palate, and Treacher Collins
syndrome.

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