Central nervous system, cranial, and cerebrovascular conditions beyond the Kimonis criteria in patients with Gorlin syndrome: a retrospective cohort study

Background

Gorlin syndrome is a multisystem developmental and cancer-predisposing disorder commonly caused by germline PTCH1 variants. The Kimonis clinical criteria capture the canonical phenotype; however, central nervous system (CNS), cranial, and cerebrovascular conditions documented beyond these criteria remain poorly defined.