Grange et al. (2008) reported two new children with CJS including one child with a desmoplastic medulloblastoma and another child with a trichoblastoma of the skin and thus hypothesized that CJS may be due to a defect in the sonic hedgehog (Shh) pathway. This evidence concerns the gene SHH and postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.