title: Russel-Silver syndrome: A historical note and comment on an older adult.
abstract: Five cases of recognizable "Intra-uterine" dwarfism with cranio-facial dysostosis, disproportionately short arms, and other anomalies were written up by endocrinologist, Dr. Alex Russell in 1954. The syndrome he described went on to be named Russell-Silver syndrome. This report gives further information about the life and medical history of the most pictorially documented boy that Dr. Russell originally described in his seminal paper. The gentleman is now 69 years old and we believe him to be the oldest person known to date to have Russell-Silver syndrome. The article includes information relating to his development of type 2 diabetes mellitus, osteopenia, testosterone deficiency, and hypercholesterolemia. Methylation studies have now confirmed the diagnosis of Russell-Silver syndrome by demonstrating partial hypomethylation at the H19 Locus at IGF2P0 on chromosome 11.
authors.affiliation: Clinical Genetics, Nottingham University Hospital, United Kingdom.
authors.forename: Claire
authors.initials: C
authors.lastname: Searle
authors.affiliation: Clinical Genetics, Sheffield Children's Hospital, United Kingdom.
authors.forename: Diana
authors.initials: D
authors.lastname: Johnson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019175:DNA Methylation; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics / Q000473:pathology; D004392:Dwarfism / Q000235:genetics / Q000473:pathology; D049673:History, 20th Century; D006801:Humans; D018969:Insulin-Like Growth Factor Binding Proteins / Q000235:genetics*; D008297:Male; D011379:Prognosis; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000266:history*
chemical_list: D018969:Insulin-Like Growth Factor Binding Proteins
keywords: Russell-Silver syndrome; Silver-Russell syndrome; diabetes mellitus, type 2; dwarfism; fetal growth retardation; hypercholesterolemia; osteopenia