A pair of sisters was ascertained for multiple congenital defects, including 
marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor 
delay. Two novel compound heterozygous mutations in UBE3B were identified in 
both the sisters by exome sequencing. These mutations include c.1A>G, which 
predicts p.Met1?, and a c.1773delC variant, predicted to cause a frameshift at 
p.Phe591fs. UBE3B encodes a widely expressed protein ubiquitin ligase E3B, 
which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. 
We report on the thorough clinical examination of the patients and review the 
state of art knowledge of this disorder.