Burn-McKeown, syndrome
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(choanal atresia-deafness-cardiopathy-craniofacial dysmorphism, OOFD syndrome)
acronym for Oculo-Oto-Facial Dysplasia
Rare. Recessive autosomal transmission of a mutation of the TXNL4A gene (18q23).
Association of:
- bilateral choanal atresia
- facial dysmorphism: hypertelorism, short palpebral fissures, lower eyelid coloboma with lashes medial to the coloboma; thin lips, prominent ears, prominent nasal bridge
- deafness
And sometimes:
- unilateral cleft lip
- preauricular enchondroma
- atrial septal cardiac defect
- kidney anomalies.
Phenotypically similar to CHARGE syndrome (see this term).
Anesthetic implications:
management of choanal atresia; risk of difficult mask ventilation and intubation.
References:
Updated: November 2019