Branchio-oculo-facial, syndrome
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Rare. Autosomal dominant transmission with variable penetrance of a mutation of the TFAP2A gene (6p24.3) causing malformations in the structures originating from the embryonic arches.
Clinical presentation:
- intrauterine and postnatal growth retardation
- ocular: micro- or anophthalmia (62 %), often unilateral; hypertelorism, imperforate lacrimal ducts (74 %), coloboma of the iris (45 %), cataract
- skin abnormalities of the face and neck: branchial fistulas with a hemangiomatous or atrophic aspect looking as a linear burn (typically: behind the ears or at the level of sterno-cleido-mastoid muscle); sometimes ectopic thymus is present in the fistulous tract in the neck; preauricular appendages
- deformities: cleft lip and/or palate; prominent philtrum edges giving the appearance of an unesthetic scar of a cleft lip (often lateralized 'pseudo-cleft'); broad nose with a flattened tip, anomalies of the external ear (badly shaped, atrophic) and of the middle ear associated to deafness; sometimes micrognathia
- normal intelligence
and sometimes renal anomalies or agenesis.
Anesthetic implications:
risk of difficult intubation ; check renal function
References :
Updated: November 2019