[MIM 259 050]

Rare. Seems sporadic following a mutation (microdeletion) of the ZBTB20 gene on 3q13.31.

Clinical picture:

-        mental retardation (sometimes schizophrenia)

-        macrocephaly

-        particular facies: wide forehead, ptosis with downslanting palpebral fissures, large pinnae the  cartilage of which is often calcified

-        rare body pilosity

-        truncal obesity and distal amyotrophy

-        diabetes mellitus

-        progressive deafness

-        significant risk of tumour of the osseous palate (torus)

Anesthetic implications:

mental retardation, blood glucose monitoring

References : 

•    Cordedder V, Redeker B, Stellasi E, Jongejan A et al. 
  Mutations of ZBTB20 cause Primrose syndrome. 
  Nat Genet 2014 ; 46 : 815-7.

Update: Octobre 2018