Searchable abstracts of presentations at key conferences in endocrinology

ea0075m06 | Metabolic Bone | EYES2021

Osteogenesis imperfecta- A novel pathogenic variant

Sriramaneni Nikitha , Selvan Chitra , Acharya N Himamshu , Naushad Altaf Ali

Background: Osteogenesis imperfecta is a systemic connective tissue disorder characterized by low bone mass and bone fragility leading to low-trauma fractures or fractures in atypical locations. Extraskeletal manifestations may include dental anomalies, blue-gray sclera, hearing loss, joint hypermobility, muscle weakness, cardiovascular and pulmonary complications.Case presentation: A 7year old boy presented with a history of fracture right femur 1 month...