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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Syndromes: Mechanisms and Management P1

Abstract unavailable
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NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families
aUnit of Paediatric Endocrinology and Growth, Hospital Clínico Universitario. Universidad de Santiago de Compostela. IDIS., Santiago de Compostela, Spain; bClinical Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain; cClinical Genetics, Centre Hospitalier Bretagne Atlantique, Vannes, France; dClinical Genetics, North West London Hospitals NHS Trust, Harrow, UK; eClinical Genetics Department, Mediscan Systems, Chennai, India; fDepartment of Génétique Médicale. Paris Descartes Universit, Hôpital Necker-Enfants Malades, Paris, France; gMolecular Medicine, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain
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Rare Cases of Ornithine Transcarbamylase Deficiency and Variant Turner Syndrome
aDepartment of Pediatrics, Pusan National University children’s Hospital, Yangsan, Republic of Korea; bMedical Genetics Center, Asan Medical Center Children’s Hospital, Seoul, Republic of Korea
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Prepubertal Ultra-low-dose Estrogen Therapy is Associated with Better Lipid Profile than Conventional Estrogen Replacement for Pubertal Induction in Adolescent Girls with Turner Syndrome - Preliminary results
aDepartment of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Cracow, Poland; bUniversity Children’s Hospital of Cracow, Cracow, Poland
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Cognitive Evaluation in Silver Russell Children
aUniversity of Genova, Genova, Italy; bPediatric Endocrinologyirccs Gaslini, Genova, Italy; cNeuropediatrics Armand Trousseau Hospital, Paris, France; dInserm Cesp, Villejuif, France; ePediatric Gastroenterology Armand Trousseau Hospital, Paris, France; fPediatric Endocrinology Armand Trousseau Hospital, Paris, France
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Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index
aDevelopmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK; bPaediatric Endocrinology Unit, Faculty of Medical Sciences, State University of Campinas, Campinas, Brazil; cDepartment of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK; dPaediatric Cardiology Unit, Clinical Hospital of State University of Campinas, Campinas, Brazil
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Near-Adult Height in a Large Cohort of Patients with Turner Syndrome and Noonan Syndrome Treated with rhGH: Results from Pfizer International Growth Database
aDivision of Paediatric Endocrinology, University Children’s Hospital, Tübingen, Tübingen, Germany; bPfizer Health AB, Sollentuna, Sweden; cPfizer Inc., Endocrine Care, New York, USA; dPediatric Endocrinology, Diabetes and Nutrition Medicine, Vestische Children’s Hospital, University of Witten/Herdecke, Datteln, Germany; eUniversity of Antwerp, Antwerpen, Belgium
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Percutaneous Epiphysiodesis Around the Knee Effectively Reduced Predicted Excessive Final Height. Preliminary Results on Final Height, Complications and Satisfaction in a Large Cohort of Dutch Boys and Girls
aCatharina Ziekenhuis, Eindhoven, The Netherlands; bMaastricht University, Maastricht, The Netherlands; cUniversity Medical Center Groningen, Groningen, The Netherlands
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Metabolic Health and Safety of GH-Treatment in Silver-Russell Syndrome
aErasmus Medical Centre, Rotterdam, The Netherlands; bDutch Growth Research Foundation, Rotterdam, The Netherlands
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Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data
aSciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy; bPaediatric Rheumatology Unit, NEUROFARBA Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy
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Identification of 11p14.1-p15.3 Deletion Probably Associated with Short Stature, Macrocephaly and Delayed Closure of the Fontanelles
aDepartment of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; bDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
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Phenotypic Variability in a Family with a New SHOX Gene Mutation
aDipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica-Seconda Università degli Studi di Napoli, Naples, Italy; bDipartimento di Medicina Clinica e Sperimentale- Clinica Pediatrica- Università degli Studi di Parma, Parma, Italy
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Correlations between Prepubertal and Pubertal Estrogen Levels and Final Height Out-Come in Growth Hormone (GH) Treated Boys with Silver Russell syndrome
aDepartment of Pediatrics, Ryhov County Hospital, Jönköping, Sweden; bGöteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden
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Skeletal Disproportion in Girls with Turner Syndrome
aDevelopmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK; bDepartment of Child Health, University of Glasgow, Glasgow, UK
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Reconsideration of Mid-Parental Height Calculation
aMarmara University, Department of Pediatric Endocrinology, Istanbul, Turkey; bBoğaziçi University, Institute of Environmental Sciences, Istanbul, Turkey
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Changes to Thyroid Function (TF) Following Treatment with Growth Hormone (GH) Therapy in Children with Prader-Willi Syndrome (PWS)
aLady Cilento Children’s Hospital, Queensland, Australia; bSchool of Medicine, The University of Queensland, Queensland, Australia; cMater Research Institute, The University of Queensland, Australia; dJohn Hunter Children’s Hospital, New South Wales, Australia
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6-Year-Old Girl with Mutation in DNMT3A - A New Overgrowth Syndrome
aPaediatric Department Regional Hospital, Viborg, Denmark; bClinical Genetic Department Aarhus University Hospital, Aarhus, Denmark
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A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype
aBambino Gesù Children’s Hospital – IRCCS; Department of Endocrinology and Diabetes, Rome, Italy; bBambino Gesù Children’s Hospital – IRCCS; Laboratory of Medical Genetics, Rome, Italy; cBambino Gesù Children’s Hospital – IRCCS; Medical Genetics Unit, Rome, Italy
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Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children
INSERM UMR S 938, UPMC, Armand Trousseau Hospital, Pediatric Endocrinology, Paris, Ile de France, France
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Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children
aDivision of Pediatrics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy; bLaboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy
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Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion
Pusan National University Children’s Hospital, Yangsan/Gyeongsangnam-Do, Republic of Korea
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International Cooperative Growth Study, NutropinAq® European Registry (iNCGS): Countries Specificities
aDiabetology, Paediatric Endocrinology, Centre Hospitalier Universitaire d’Angers, Angers, France; bDepartment of Paediatrics, University of Chieti, Chieti, Italy; cDepartment of Paediatric Endocrinology, Hospital Arnau de Vilanova, LLeida, Spain; dNational Institute of Endocrinology, Department of Paediatric Endocrinology, Bucharest, Romania; ePediatric Endocrinology, Children’s Hospital, Charité – University Medicine Berlin, Berlin, Germany; fIpsen, Boulogne-Billancourt, France; gGenetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
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Effects of a Stressful Environment (SE) on Height, BMI and Menarche
aBnai Zion Medical Center, Haifa, Israel; bClalit HMO, Haifa, Israel; cFaculty of Social Sciences, University of, Haifa, Israel; dBioinformatics Knowledge Unit, The Lokey Center, Technion – Israel Institute of Technology, Haifa, Israel; eTechnion-Israel Institute of Technology, Haifa, Israel
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Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?
aUniversity of Trieste, Trieste, Italy; bInstitute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy; cUniversity of Milano-Bicocca, MBBM Foundation, Monza, Italy; dSan Raffaele Scientific Institute, Vita-Salute University, Milano, Italy
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OSBPL5 Methylation Abnormalities may be Pathogenic in Silver Russell Syndrome Through Genomic Methylation Analysis
Beijing Children’s Hospital, Capital Medical University, Beijing, China
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A Study of Bone Health Index (BHI) in Girls with Turners Syndrome
aAlder Hey Children’s Hospital NHS Foundation Trust, Liverpool, UK; bUniversity of Liverpool, Liverpool, UK
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Premature Adrenarche in Silver-Russell Syndrome: A Longitudinal Study
University Children’s Hospital, Pediatric Endocrinology, Tübingen, Germany
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A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment
aUniversitary Department Pro.Sa.M.I. “G. D’Alessandro” University of Palermo, Palermo, Italy; bDepartment “Area delle scienze genetiche e IBMDR”, Human Genetic Department, Ospedali Galliera, Genoa, Italy
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Serum Levels of IL-6, TNF-a, Omentin-1 are Increased in Girls with Turner Syndrome
Peadiatric Department, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China
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Analysis of Phenotype and HRAS Gene Mutation in a Chinses Girl with Costello Syndrome
Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China
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