Burn-McKeown, syndrome

[MIM 608 572]

(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