[MIM 244 450]

Very rare. Autosomal recessive transmission of a heterozygous mutation of the UBE3B (12q24.11).

Association of:

-        microcephaly with upslanting (mongoloid) type palpebral fissures

-        ocular anomalies: microcornea, strabismus, myopia, optic atrophy, hypertelorism,

-        psychomotor retardation

-        micrognathia, high-arched palate

-        postnatal growth retardation

Anesthetic implications:

difficult intubation.

References : 

Updated: February 2019