LEOPARD syndrome

Abstract

We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD syndrome. We discuss the clinical characteristics of LS, the need for follow up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome.