OI
This structural protein, is defective in most forms of osteogenesis imperfecta.
Type 1 Collagen
This fracture pattern occurs when bone is twisted, producing a corkscrew-like break along its length.
Spiral Fracture
Elevated levels of this enzyme, mainly from osteoblasts, can indicate increased bone formation or turnover.
This term describes a genetic mutation that occurs for the first time in a family, often seen in severe OI Type II.
De Novo Mutation
The presence of injuries in different stages of healing, such as bruises of varying colors, suggests this.
What is repeated/chronic trauma
This type of OI is the mildest form, often presenting with multiple fractures during childhood but normal life expectancy.
Type 1
A fracture where bone is broken into 3 or more segments
What is a comminuted fracture?
Low serum phosphate and low vitamin D levels are seen in this bone disorder characterized by defective mineralization.
Osteomalacia (or rickets in children)
This principle requires that patients be given complete information about risks, benefits, and alternatives before undergoing genetic testing for severe bone disorders.
What is informed consent?
In most jurisdictions, physicians are mandated to do this when they suspect child abuse.
Report abuse to CPS
Which gene is defective in OI
COLA1 and COLA2
Seen in children, this fracture pattern results from bending forces, causing one side of the bone to break while the other remains intact
What is a greenstick fracture?
This lab test can be used to evaluate collagen degradation in osteogenesis imperfecta and is often elevated in urine.
What is Urinary Hydroxyproline
When a patient has a known mutation causing OI, prenatal testing can be performed on a fetus using these two methods.
Chorionic vili sampling or amniocentesis
Failing to report suspected child abuse can expose a physician to this type of legal consequence.
What is criminal/civil liability?
This more severe but non-lethal form of OI is marked by progressive bone deformity, dentinogenesis imperfecta, and very short stature.
Type III
A fracture that extends through the growth plate in children.
What is a Salter-Harris fracture?
A decreased serum level of this mineral is a key feature of osteomalacia and rickets due to defective mineralization.
The potential psychological impact on parents learning their child carries a mutation for a severe bone disorder reflects the importance of providing this type of support
Genetic counseling/psychosocial support
This type of fracture, often transverse or spiral in a non-ambulatory child, should raise concern for inflicted injury.
What are long-bone fractures?
This type of OI is the most severe, often lethal in utero or shortly after birth due to extreme skeletal fragility.
Type II
A fracture that results from repeated microtrauma rather than a single, acute injury.
What is a Stress Fracture
This urinary marker reflects osteoclast activity and collagen breakdown, often elevated in high-turnover states like Paget disease or hyperparathyroidism.
What is N-telopeptide (NTX) or C-telopeptide (CTX)?
For disorders like achondroplasia, where many cases are sporadic, counseling includes discussion of advanced paternal age as a risk factor for this type of mutation.
What is a de novo FGFR3 mutation?
This ethical principle requires physicians to act in the child’s best interest, balancing confidentiality with protection.
What is beneficience?