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...

hrp0086p2-p148 | Bone & 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....