SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by 
mutations in the SOX2 gene and clinically characterized by severe eye 
malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly 
involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 
anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 
genotyping in this patient revealed an apparently de novo c.70del20 deletion, a 
commonly reported SOX2 mutation. A review of the phenotypic variation observed 
in patients carrying the recurrent SOX2 c.70del20 mutation is presented. 
Although dental anomalies are uncommonly reported in the SOX2 anophthalmia 
syndrome, we suggest that a dental examination should be performed in patients 
with SOX2 mutations.