CLINICAL QUERIES: Understanding osteogenesis imperfecta
Bridget Parsh EdD, RN, CNS
Holly Wilson BSN, RN

July 2012 
Volume 42  Number 7
Pages 68 - 68
  PDF Version Available!

What is osteogenesis imperfecta and what are some key concerns when caring for patients with this disorder?-S.S., LA.Bridget Parsh, EdD, RN, CNS, and Holly Wilson, BSN, RN, respond: Osteogenesis imperfecta (OI) or "brittle bone disease" is a rare genetically transmitted defect in the production of collagen resulting in fragile bones. OI is classified as one of nine major subtypes, ranging in clinical severity from mild to lethal, that cause presentation at various stages of development.1,2Clinical manifestations include frequent and multiple fractures, increased joint flexibility, short stature, blue sclerae, hearing loss, and dentinogenesis imperfecta (opalescent teeth that wear quickly).2,3Patients are usually diagnosed in childhood by exclusion, which means after other possible causes, such as rickets, osteomalacia, and child abuse are ruled out.4 OI is often mistaken for child abuse because fractures of the femur, tibia, humerus, and ribs, which are common in OI, are also typical injuries

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