Osteogenesis imperfecta is a genetic disorder caused by a defect in the collagen gene that results in brittle bones that break easily from minor stress or trauma. There are four main types of OI that vary in severity from very mild to lethal in infancy. While there is no cure for OI, treatments focus on increasing bone strength through bisphosphonates and low-impact exercise, as well as surgery to repair broken bones. People with OI must manage their condition for life through precautions to avoid further fractures.
Description : Osteogenesis Imperfecta/
Brittle bone disease :
It is disorder of type I collagen synthesis that affects all connective tissue in the body.
Musculoskeletal involvement is diffuse and includes osteoporosis with excessive fracture even at birth, bowing of long bone, spinal deformities, muscle weakness and ligamentous laxity.
Key words :
Osteogenesis Imperfecta, Brittle bone disease, Genetic disorder, Pathophysiology, Types of OI, Denetinogenesis Imperfecta, Bluish sclera, Frequent fractures, fractures, Hearing loss, Management, orthopedic, Rehabilitation
Physiotherapy, pediatrics, physiotherapist, pediatric orthopedic surgery.
A week old male infant presented with severe tenderness all over the body with associated continuous crying. There was bowing of both limbs. A total body radiograph revealed multiple healed and healing fractures in the long bones and ribs. The long bones were short, broad and bowing with thinning of the cortex. The spine shows compressed, flattened and irregular vertebral bodies. Some infants� deaths has been recorded in the family. Osteogenesis imperfecta is a rare disorder of connective tissue which is characterized by skeletal deformity, bone fragility, fractures, ligament laxity, hearing loss, blue sclera, dental abnormality and thin skin. All those features will not manifest in one case; they are therefore group into four types and subtypes. This case is more of Type 2 and Type 2A Osteogenesis imperfecta.
This is a presentation I did last semester in which I discuss how the OTPF applies to osteogenesis imperfecta. I collected data from scholarly as well as non-scholarly resources. I hope this is helpful to you.
This presentation details Osteogenic Imperfecta in its varying clinical manifestations in the population and offers a variety of adjunctive treatments not commonly used in OI management across the lifespan in order to decrease fracture, pain, and disability.
A one-year old child is discovered to have numerous bone fractures. S.pdfjovankarenhookeott88
A one-year old child is discovered to have numerous bone fractures. Social workers suspect
child abuse. What condition might lead to a false conclusion about this child? Explain what
causes this developmental disorder. How common is it?
Solution
Several fractures in various stages of healing of a child is not always a case of child abuse but it
may be a genetic disorder called osteogenesis imperfecta.
The disease follows autosomal dominant pattern of inheritance generally, But in some cases it
may follow autosomal recessive pattern of inheritance. There are eight recognized forms of
osteogenesis imperfecta.
Causes-- Mutations in the COL1A1 and COL1A2 genes causes the disease in 90% of cases.
CRTAP and P3H1 genes also cause osteogenesis imperfecta. These genes are responsible for
Type I collagen assembly. Type I collagen I required in formation and strengthening of
connective tissues, particularly bones. Due to the mutation collagen triple helix is denatured. As
a result the bones become fragile. Type I OI, which is a milder form, are characterized by bone
fractures during childhood and adolescence and this type occurs due to mutation in the COL1A1
gene. More severe forms of osteogenesis imperfecta (type II and type III) have no family history
and caused by sporadic mutations in the COL1A1 or COL1A2 gene.
More researches are still in progress to know more details (others genes that are involved,
alternative cause, treatment of the disease) about the disease.
Frequency—According to NIH report the disease is found in 6 to 7 per 100,000 people
worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4
to 5 per 100,000 people..
Description : Osteogenesis Imperfecta/
Brittle bone disease :
It is disorder of type I collagen synthesis that affects all connective tissue in the body.
Musculoskeletal involvement is diffuse and includes osteoporosis with excessive fracture even at birth, bowing of long bone, spinal deformities, muscle weakness and ligamentous laxity.
Key words :
Osteogenesis Imperfecta, Brittle bone disease, Genetic disorder, Pathophysiology, Types of OI, Denetinogenesis Imperfecta, Bluish sclera, Frequent fractures, fractures, Hearing loss, Management, orthopedic, Rehabilitation
Physiotherapy, pediatrics, physiotherapist, pediatric orthopedic surgery.
A week old male infant presented with severe tenderness all over the body with associated continuous crying. There was bowing of both limbs. A total body radiograph revealed multiple healed and healing fractures in the long bones and ribs. The long bones were short, broad and bowing with thinning of the cortex. The spine shows compressed, flattened and irregular vertebral bodies. Some infants� deaths has been recorded in the family. Osteogenesis imperfecta is a rare disorder of connective tissue which is characterized by skeletal deformity, bone fragility, fractures, ligament laxity, hearing loss, blue sclera, dental abnormality and thin skin. All those features will not manifest in one case; they are therefore group into four types and subtypes. This case is more of Type 2 and Type 2A Osteogenesis imperfecta.
This is a presentation I did last semester in which I discuss how the OTPF applies to osteogenesis imperfecta. I collected data from scholarly as well as non-scholarly resources. I hope this is helpful to you.
This presentation details Osteogenic Imperfecta in its varying clinical manifestations in the population and offers a variety of adjunctive treatments not commonly used in OI management across the lifespan in order to decrease fracture, pain, and disability.
A one-year old child is discovered to have numerous bone fractures. S.pdfjovankarenhookeott88
A one-year old child is discovered to have numerous bone fractures. Social workers suspect
child abuse. What condition might lead to a false conclusion about this child? Explain what
causes this developmental disorder. How common is it?
Solution
Several fractures in various stages of healing of a child is not always a case of child abuse but it
may be a genetic disorder called osteogenesis imperfecta.
The disease follows autosomal dominant pattern of inheritance generally, But in some cases it
may follow autosomal recessive pattern of inheritance. There are eight recognized forms of
osteogenesis imperfecta.
Causes-- Mutations in the COL1A1 and COL1A2 genes causes the disease in 90% of cases.
CRTAP and P3H1 genes also cause osteogenesis imperfecta. These genes are responsible for
Type I collagen assembly. Type I collagen I required in formation and strengthening of
connective tissues, particularly bones. Due to the mutation collagen triple helix is denatured. As
a result the bones become fragile. Type I OI, which is a milder form, are characterized by bone
fractures during childhood and adolescence and this type occurs due to mutation in the COL1A1
gene. More severe forms of osteogenesis imperfecta (type II and type III) have no family history
and caused by sporadic mutations in the COL1A1 or COL1A2 gene.
More researches are still in progress to know more details (others genes that are involved,
alternative cause, treatment of the disease) about the disease.
Frequency—According to NIH report the disease is found in 6 to 7 per 100,000 people
worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4
to 5 per 100,000 people..
2. What Causes OI? Caused by a defect in the gene that produces collagen in the bone Specific gene defected will cause severity to the OI patient
3. Transmission Can be transmitted through DNA from parent to child Also can be developed by a new genetic mutation Not contagious/communicable
4. Who Can Get It? OI will develop only as an infant May be detected at a later age Anyone that carries the gene is more susceptible to having the disease
5. Signs and Symptoms People with OI will have it for life Weak bones prone to accidents Blue tints to the whites of their eyes Many bone fractures from minimal force Early hearing loss Below average height for age Bowed arms or legs (in most severe cases)
6. Types of OI Chronic illness Four Types of OI Type I OI: normal life span, less severe bone breaks and fractures Type II OI: most severe, result in death within the first year of life Type III OI: severe but have longer lifespans than type II, many fractures early in life, develop bone deformities Type IV OI: moderately severe, need crutches/braces to walk
7. Prevention Visiting a genetic counselor before conceiving can help alert a couple about OI history in their family Can not be prevented No cures for disease, but treatments
8. Treatment Bisphosphonates treat osteoperosis, but can increase strength in bones for OI patients Can help decrease pain in bones Swimming is a low contact activity that can help with strength More severe cases: surgery for metal rod placement against bones
9. Terminal? The disease is terminal Person with OI must take precaution with every move they make for the rest of their lives