New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister‐Hall Syndrome: A Clinical Report

We report the first case described in Colombia of a previously unreported truncating genetic variant. We performed a clinical-molecular correlation in a 23-year-old adult whose diagnosis of PHS was delayed until adulthood, years after the initial identification of a hypothalamic hamartoma, refractory gelastic seizures, polydactyly, and mild cognitive impairment. This case broadens the clinical spectrum regarding the viability of patients with PHS into adulthood, showing that it is not restricted to the severe neonatal or infantile presentations classically described.