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Anna Kistner Women and Child Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden

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Mireille Vanpée Women and Child Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden

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Kerstin Hall Women and Child Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden

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Introduction Low birth weight (LBW) is a consequence of either intrauterine growth restriction (IUGR) resulting in infants born small for gestational age (SGA) or due to preterm interruption of gestation or a combination of these two. LBW

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R Solomon-Zemler Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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L Basel-Vanagaite Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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D Steier Day Hospitalization Department, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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S Yakar David B. Kriser Dental Center, Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, New York, USA

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E Mel Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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M Phillip Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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L Bazak Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel

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D Bercovich Tel-Hai College, Tel-Hai, Israel

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H Werner Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel

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L de Vries Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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defects), IGFALS mutations and IGF1R gene mutations or rearrangements. Most reported IGF1R mutations were diagnosed in children born small for gestational age (SGA) ( 1 ). These mutations can affect ligand binding and/or reduce cell-surface IGF1R

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P G Murray Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D Hanson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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T Coulson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Stevens Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Whatmore Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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R L Poole Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D J Mackay Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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G C M Black Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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P E Clayton Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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under recognised condition (6) ; its core characteristics of pre- and post-natal growth impairment are shared with all small for gestational age (SGA) children with failure of catch up growth. This includes many children in whom there is as yet no clear

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Robert Rapaport Ichan School of Medicine, New York, New York, USA

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Peter A Lee Penn State College of Medicine, Hershey, Pennsylvania, USA

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Judith L Ross Thomas Jefferson University, Philadelphia, Pennsylvania, USA
Nemours/DuPont Hospital for Children, Wilmington, Delaware, USA

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Paul Saenger Winthrop University Hospital, Mineola, New York, USA

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Vlady Ostrow Novo Nordisk Inc., Plainsboro, New Jersey, USA

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Giuseppe Piccoli Novo Nordisk Inc., Plainsboro, New Jersey, USA

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), idiopathic short stature (ISS) and small for gestational age (SGA) ( 1 , 2 ). Although clinical characteristics of these growth disorders often overlap, criteria for SGA can be distinguished from those of other GH disorders in that diagnosis is defined by

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Robert Rapaport Division of Pediatric Endocrinology & Diabetes, Mount Sinai Kravis Children’s Hospital and Icahn School of Medicine at Mount Sinai, New York, New York, USA

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Jan M Wit Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, London, UK

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.icped.org ) ( 6 ), short children born small for gestational age (SGA) is classified under primary growth disorders according to the absence of a known factor outside of the growth plate, and thus the expectation that the cause may reside in the growth plate

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María Dolores Rodríguez Arnao Pediatric Endocrinology Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Amparo Rodríguez Sánchez Pediatric Endocrinology Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Ignacio Díez López Hospital Universitario Araba, Araba/Alava, Spain

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Joaquín Ramírez Fernández Hospital Universitario Príncipe de Asturias, Oviedo, Spain

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Jose Antonio Bermúdez de la Vega Centro Nuevas Tecnologias, Sevilla, Spain

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Diego Yeste Fernández Hospital Vall d’Hebrón, Barcelona, Spain

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María Chueca Guindulain Complejo Hospitalario de Navarra, Pamplona, Spain

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Raquel Corripio Collado Corporació Sanitària Parc Taulí, Sabadell, Barcelona, Spain

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Jacobo Pérez Sánchez Corporació Sanitària Parc Taulí, Sabadell, Barcelona, Spain

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Ana Fernández González Merck S.L.U., Madrid, Spain

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ECOS Spain Study Collaborative Investigator Group
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syndrome (TS), chronic renal insufficiency (CRI) and children born small for gestational age (SGA) ( 2 , 3 ). Pathologies requiring the administration of r-hGH in pediatric patients show a great variability in severity (especially among secretion

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Xin He Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Qin Yan Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Chazhen Liu Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Zhengyuan Wang Department of Nutrition Hygiene, Division of Health Risk Factor Monitoring and Control, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Ping Liao Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Tong Liu Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Zehuan Shi Department of Nutrition Hygiene, Division of Health Risk Factor Monitoring and Control, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Qi Song Department of Nutrition Hygiene, Division of Health Risk Factor Monitoring and Control, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Xueying Cui Department of Nutrition Hygiene, Division of Health Risk Factor Monitoring and Control, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Wenjing Wang Laboratory of Functional Medicine, Division of Chronic Non-communicable Diseases and Injury, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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Jiajie Zang Department of Nutrition Hygiene, Division of Health Risk Factor Monitoring and Control, Shanghai Municipal Center for Disease Control and Prevention, Shanghai, China

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studies have shown that birth weight may even be related to the risk of chronic non-communicable diseases during adulthood ( 1 ). Small for gestational age (SGA), which reflects fetal intrauterine growth restriction, is a major risk factor for perinatal

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Huma Qamar Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada

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Nandita Perumal Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada

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Eszter Papp Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada

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Alison D Gernand Department of Nutritional Sciences, Pennsylvania State University, University Park, Pennsylvania, USA

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Abdullah Al Mahmud Nutrition and Clinical Services Division, International Centre for Diarrhoeal Disease Research (icddr,b), Dhaka, Bangladesh

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Daniel E Roth Centre for Global Child Health, Hospital for Sick Children, Toronto, Ontario, Canada
Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada
Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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small-for-gestational age (SGA), defined as birthweight below the 10 th centile of gestational age- and sex-matched healthy reference population, are conventional indicators of IUGR. Length and head circumference at birth are important indicators of

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Ekaterina Koledova Biopharma Global Medical Affairs, General Medicine and Endocrinology, Merck KGaA, Darmstadt, Germany

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George Stoyanov Biopharma Global Medical Affairs, General Medicine and Endocrinology, Merck KGaA, Darmstadt, Germany

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Leroy Ovbude Business & Decision Life Sciences, Brussels, Woluwe-Saint-Lambert, Belgium

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Peter S W Davies Children’s Nutrition Research Centre, Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia

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Introduction Recombinant human growth hormone (GH) is approved for use in the treatment of children with various aetiologies, including growth hormone deficiency (GHD), Turner syndrome (TS) and born small for gestational age (SGA) with no

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Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

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Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

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Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

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Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

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Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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features SGA, short stature, relative macrocephaly, prominent forehead, triangular face with pointed chin, prominent nose with high nasal bridge, large, dysplastic, and low-set ears, enlarged upper incisors. Normal psychomotoric development. (referred

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