hrp0089p3-p040 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel p.Gly775Glu Missense COL1A2 Mutation Causes Severe Osteogenesis Imperfecta in a Prepubertal Girl

Kotanidou Eleni P , Doulgeraki Artemis , Costantini Alice , Makitie Outi , Athanasopoulou Helen , Laliotis Nikolaos , Galli-Tsinopoulou Assimina

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

hrp0098p2-41 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Linear growth in children and adolescents treated with zoledronic acid (ZA): A Single Institution Case Series

Bonataki Myrto , Doulgeraki Artemis , Papadopoulou Aikaterini-Kydonia , Polyzois Georgios , Athanasopoulou Helen , Vlachopapadopoulou Elpis-Athina

Introduction: Intravenously given bisphosphonates are the treatment of choice for pediatric osteoporosis. As bone resorption is an essential part of the normal endochondral ossification process, there were concerns on the possible negative impact of bisphosphonates on longitudinal growth during childhood. The aim of this study is to report the impact of zoledronic acid (ZA) on height in pediatric patients with primary osteoporosis.<stron...

hrp0086p2-p148 | Bone &amp; Mineral Metabolism P2 | ESPE2016

A Preliminary Report on Body Composition Profile of Young Patients with Chronic Hemolytic Conditions

Doulgeraki Artemis , Chatziliami Antonia , Athanasopoulou Helen , Polyzois Georgios , Petrocheilou Glykeria , Iousef Jacqueline , Karabatsos Fotis , Schiza Vasiliki , Fragodimitri Christina

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....