Clinical manifestations associated with GLI2 mutations range widely, from individuals with no apparent abnormalities to those presenting with polydactyly, craniofacial dysmorphisms, pituitary defects, Culler-Jones syndrome, and holoprosencephaly type 9 (HPE9; OMIM: 610829) (2, 14). Here, GLI2 is linked to postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.