ba0002op4 | (1) | ICCBH2013
Semler Oliver
, Hoyer-Kuhn Heike
, Garbes Lutz
, Netzer Christian
, Schoenau Eckhard
Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...