MIM 615 879]

Very rare. Form of gigantism. Mutation or microdeletion of DNMT3A gene (3p23.3), that codes for a DNA methyltransferase.

Clinical presentation:

-        large height (+ 3 SD) and big head (+ 2.5 SD)

-        facial dysmorphism: rounded head, narrow palpebral fissures, horizontal and thick eyebrows

-        often moderate intellectual deficit

-        ASD or VSD,

-        Chiari malformation type I,

-        scoliosis, sacral cyst.

-        increased risk of acute myeloid leukemia ?

Anesthetic implications:

echocardiography, check total blood count, exclude the presence of a Chiari malformation

References :

-        Okamoto N, Toribe Y, Shimojima K, Yamamoto T.
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Am J Med Genet A; 2016: 170A:1339-42.

Updated: January 2017