title: Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
abstract: This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.
authors: North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow HA1 3UJ, UK.
authors: Emma L
authors: EL
authors: Wakeling
authors: AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012 Paris, France.|Centre de Recherche Saint Antoine, INSERM UMR S938, 34 rue Crozatier, 75012 Paris, France.|Sorbonne Universities, UPMC UNIV Paris 06, 4 place Jussieu, 75005 Paris, France.
authors: Frédéric
authors: F
authors: Brioude
authors: Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.|Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
authors: Oluwakemi
authors: O
authors: Lokulo-Sodipe
authors: Department of Paediatrics and Child Health, Cork University Hospital, Wilton, Cork T12 DC4A, Ireland.
authors: Susan M
authors: SM
authors: O'Connell
authors: MAGIC Foundation, 6645 W. North Avenue, Oak Park, Illinois 60302, USA.
authors: Jennifer
authors: J
authors: Salem
authors: Academic Medical Centre, Department of Clinical Genetics, Laboratory for Genome Diagnostics, Meibergdreef 15, 1105AZ Amsterdam, Netherlands.
authors: Jet
authors: J
authors: Bliek
authors: Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 5° andar sala 5340 (LIM25), 01246-000 São Paulo, SP, Brazil.
authors: Ana P M
authors: AP
authors: Canton
authors: Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors: Krystyna H
authors: KH
authors: Chrzanowska
authors: Department of Paediatric Endocrinology, University Hospital Southampton, Tremona Road, Southampton SO16 6YD, UK.
authors: Justin H
authors: JH
authors: Davies
authors: Institutes of Metabolism and Systems Research, Vincent Drive, University of Birmingham, Birmingham B15 2TT, UK.|Centre for Endocrinology, Diabetes and Metabolism, Vincent Drive, Birmingham Health Partners, Birmingham B15 2TH, UK.|Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham B4 6NH, UK.
authors: Renuka P
authors: RP
authors: Dias
authors: AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Nutrition and Gastroenterology Department, 26 avenue du Dr Arnold Netter, 75012 Paris, France.|Trousseau Hospital, HUEP, APHP, UPMC, 75012 Paris, France.
authors: Béatrice
authors: B
authors: Dubern
authors: Insitute of Human Genetics, Technical University of Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.
authors: Miriam
authors: M
authors: Elbracht
authors: AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012 Paris, France.|Centre de Recherche Saint Antoine, INSERM UMR S938, 34 rue Crozatier, 75012 Paris, France.|Sorbonne Universities, UPMC UNIV Paris 06, 4 place Jussieu, 75005 Paris, France.
authors: Eloise
authors: E
authors: Giabicani
authors: Perelman School of Medicine, University of Pennsylvania, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Suite 11NW30, Philadelphia, Pennsylvania 19104, USA.
authors: Adda
authors: A
authors: Grimberg
authors: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Copenhagen, Denmark.
authors: Karen
authors: K
authors: Grønskov
authors: Erasmus University Medical Center, Pediatrics, Subdivision of Endocrinology, Wytemaweg 80, 3015 CN, Rotterdam, Netherlands.
authors: Anita C S
authors: AC
authors: Hokken-Koelega
authors: Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 5° andar sala 5340 (LIM25), 01246-000 São Paulo, SP, Brazil.
authors: Alexander A
authors: AA
authors: Jorge
authors: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagayaku, Tokyo 157-8535, Japan.
authors: Masayo
authors: M
authors: Kagami
authors: APHP, Department of Pediatric Endocrinology, Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'Expertise Paris Sud Maladies Rares, Hospital Bicêtre Paris Sud, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
authors: Agnes
authors: A
authors: Linglart
authors: IRCCS Istituto Giannina Gaslini, University of Genova, Via Gerolamo Gaslini 5, 16147 Genova, Italy.
authors: Mohamad
authors: M
authors: Maghnie
authors: Otto-von-Guericke University, Department of Pediatrics, Leipziger Street 44, 39120 Magdeburg, Germany.
authors: Klaus
authors: K
authors: Mohnike
authors: Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Gran via 199-203, Hospital Duran i Reynals, 08908, Barcelona, Spain.
authors: David
authors: D
authors: Monk
authors: Fetal Growth and Development Group, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
authors: Gudrun E
authors: GE
authors: Moore
authors: Centre for Paediatrics and Child Health, Institute of Human Development, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.
authors: Philip G
authors: PG
authors: Murray
authors: Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
authors: Tsutomu
authors: T
authors: Ogata
authors: Pediatric Endocrinology, Genetic, Bone Disease &Gynecology Unit, Children's Hospital, TSA 70034, 31059 Toulouse, France.
authors: Isabelle Oliver
authors: IO
authors: Petit
authors: Instituto Auxologico Italiano, Cytogenetic and Molecular Genetic Laboratory, via Ariosto 13 20145 Milano, Italy.
authors: Silvia
authors: S
authors: Russo
authors: Department of Anatomy &Cell Biology, Centre for Molecular Medicine &Biobanking, Faculty of Medicine &Surgery, University of Malta, Msida MSD2090, Malta.|Section of Medical Genetics, Department of Pathology, Mater dei Hospital, Msida MSD2090, Malta.
authors: Edith
authors: E
authors: Said
authors: IASIS Hospital, 8 Voriou Ipirou, 8036, Paphos, Cyprus.|The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors: Meropi
authors: M
authors: Toumba
authors: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Copenhagen, Denmark.
authors: Zeynep
authors: Z
authors: Tümer
authors: University Children's Hospital, Pediatric Endocrinology, Hoppe-Seyler-Strasse 1, 72070 Tuebingen, Germany.
authors: Gerhard
authors: G
authors: Binder
authors: Insitute of Human Genetics, Technical University of Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.
authors: Thomas
authors: T
authors: Eggermann
authors: Mount Sinai School of Medicine, 5 E 98th Street #1192, New York, New York 10029, USA.
authors: Madeleine D
authors: MD
authors: Harbison
authors: Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.|Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
authors: I Karen
authors: IK
authors: Temple
authors: Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
authors: Deborah J G
authors: DJ
authors: Mackay
authors: AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012 Paris, France.|Centre de Recherche Saint Antoine, INSERM UMR S938, 34 rue Crozatier, 75012 Paris, France.|Sorbonne Universities, UPMC UNIV Paris 06, 4 place Jussieu, 75005 Paris, France.
authors: Irène
authors: I
authors: Netchine
mesh_terms: D019468:Disease Management; D007987:Gonadotropin-Releasing Hormone / Q000627:therapeutic use; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D038622:Internationality; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*
chemical_list: D019382:Human Growth Hormone; D007987:Gonadotropin-Releasing Hormone