|No. of Victims||
Osteogenesis Imperfecta (OI), also known as brittle bone disease or Lobstein syndrome,is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures,blue sclerae, hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and depression. While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. In some cases, an ultrasound can identify bone abnormalities at 14-18 weeks. Cells obtained through chorionic villus sampling or amniocentesis can also be analyzed for a genetic mutation A family history is often not present. Keys to distinguishing OI from child abuse if no other stigmata of OI are present include the following points:
The type of fracture is of diagnostic significance; although any type of long bone fracture can occur in OI, certain types are rare; metaphyseal corner fractures, which are common in child abuse, are rare in OI In children with OI, fractures may continue to occur while they are in protective custody; however, this scenario is hard to evaluate Child abuse can also be differentiated from OI on the basis of nonskeletal manifestations (eg, retinal hemorrhage, visceral intramural hematomas, intracranial bleeds of various ages, pancreatitis, and splenic trauma) Collagen analysis is useful in difficult cases, but a negative result does not rule out OI.
- The title of the movie Fragile was also named after the symptoms of the disease which includes fragile bones.