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Osteogenesis Imperfecta AKA "brittle bone disease" - Coggle…
Osteogenesis Imperfecta AKA "brittle bone disease"
What is it?
causes a person's bones to break easily
varies from person to person: severity level
1:20,000 individuals
racial and ethnic groups
4 well known types: distinguished by fracture frequency and severity. As well as three additional types have been identified
90% of OI caused by dominant mutation of two type I collagen genes. Type VII is caused by recessive mutations in another gene
Symptoms
Type I OI is the mildest form of the condition. People who have type I OI have bone fractures during childhood and adolescence often due to minor trauma
Type II OI is the most severe form of OI. Infants with type II have bones that appear bent or crumpled and fractured before birth
Type III OI also has relatively severe signs and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in early infancy.
Type IV OI is the most variable form OI. Symptoms of OI type IV can range from mild to severe. About 25 percent of infants with OI type IV are born with bone fractures
Diagnosis
family history or clinical presentation
frequent fractures
short stature
blue hue to white part of eye
teeth problems
hearing loss
X-rays
laboratory testing
DNA sequencing
Treatment
no cure: involves supportive therapy to decrease fractures and disabilities
best managed by a medical team
physical and occupational therapy
currently researching treatment with a medication called biophosphonates to help with bone formation and decrease the need for surgery
Inheritance?
Autosomal dominant pattern: infants with severe type II are born into family history of the condition
can be a mutation: and will be passed down to future generations
with one copy of gene mutation: 50% chance of passing onto offspring
rarely inherited with recessive pattern: but are carriers of the disorder