title: [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.
authors.affiliation: Paediatrisk Afdeling, Odense Universitetshospital, DK-5000 Odense C. lars.kjaersgaard.hansen@ouh.regionsyddanmark.dk
authors.forename: Lars Kjaersgård
authors.initials: LK
authors.lastname: Hansen
authors.forename: Kirsten
authors.initials: K
authors.lastname: Risby
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Gerdes
mesh_terms: D002648:Child; D005817:Genetic Counseling; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11