The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. Subsequently, many patients were reported expanding the phenotype. Familial cases demonstrated variability and lead to linkage and then gene identification. Mutations in the responsible gene, GLI3 are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene.
Keywords: GLI3; Pallister-Hall syndrome; anal anomalies; hypopituitary; hypothalamic hamartoblastoma; hypothalamic hamartomas; multiple congenital anomalies, history; polydactyly.
© 2014 Wiley Periodicals, Inc.