[MIM 616 638]

Autosomal dominant transmission of a mutation of MTOR gene (1p36.22)

Clinical presentation:

-        macrocephaly,

-        facial dysmorphism: midface hypoplasia, narrow chin, prominent frontal bossing, hypertelorism and downslanting palpebral fissures, smooth philtrum, and thin upper lip

-        umbilical hernia

-        epilepsy

-        developmental retardation

Anesthetic implications:

epilepsy

References :

Updated: January 2017