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ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2


Hypophosphatemic Rickets in Norwegian Children: Genotypes, Phenotypes, and Complications
aInstitute of clinical science, University of Bergen, Bergen, Norway; bCenter of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; cDepartment of Pediatrics, Haukeland University Hospital, Bergen, Norway
Increased Fracture Rate in Children and Adolescents with Marfan Syndrome
aAO Salvini P.O. Rho, Rho (Milan), Italy; bMarfanClinic-Cardiology Dpt Sacco Hospital, Milan, Italy; cLaboratory of Pediatric Endocrinology, San Raffaele Scientific Institute, Milan, Italy
Mutations in IFITM5 Leading to Prenatal and Postnatal Signs of Dominant Osteogenesis Imperfecta
aChildren’s Hospital, University of Cologne, Cologne, Germany; bInstitute of Human Genetics, University of Cologne, Cologne, Germany
Musculoskeletal Health in Children with Crohn's Disease at Diagnosis: Dynamic Muscle Function, Tibia Cortical and Trabecular Bone Density and Vertebral Fracture Prevalence
aDepartment of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada; bDepartment of Pediatrics, Shriners Hospital for Children, McGill University, Montréal, Québec, Canada; cChildren’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; dDepartment of Diagnostic Imaging, University of Ottawa, Ottawa, Ontario, Canada
A New Missense Mutation in FGF23 Gene in a Male with Hyperostosis-hyperphosphatemia Syndrome
aGrowth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran; bEndocrinology and Metabolism Clinical Sciences Institute, Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, Iran; cDepartment of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran; dBiosensor Research Center, Endocrinology and Metabolism Molecular-Cellular Science, Tehran, Iran
Pseudohypoparathyroidism Type 1A Due to Novel GNAS Mutation
aPediatric Endocrinology and Diabetes Unit, Sheba Medical Center, The Edmond and Lily Safra Children’s Hospital, Tel Hashomer, Ramat Gan, Israel; bTel-Aviv University, Tel-Aviv, Israel
Pseudohypoparathyroidism Type Ib: Two Cases with Different Clinical Presentation
aPediatric Unit, Department of Medical and Surgical Sciences, Program of Endocrinology, University of Bologna and S.Orsola-Malpighi Hospital, Bologna, Italy; bDepartment of Pediatrics, University of Ferrara, Ferrara, Italy; cEndocrine Unit, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA; dDepartment of Clinical and Community Sciences, University of Milan, Milano, Italy; eInfantile
Neuropsichiatry Unit-Maggiore Hospital, Bologna, Italy
A Very Rare Case of Rickets: Fanconi-Bickel Syndrome
aDepartment of Paediatrics, EPH Gouraya, Tipaza, Algeria; bDepartment of Paediatrics, CHU Bab El Oued, Algiers, Algeria; cDepartment of Neonatology, EPSP Baraki, Algiers, Algeria; dDepartment of Paediatrics, CHU Constantine, Constantine, Algeria; eUF Génétique, Hôpital Bichat Claude Bernard, Paris, France
Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome
Health Science Department, Anna Meyer Children’s University Hospital, University of Florence, Florence, Italy