Osteogenesis Imperfecta: Difference between revisions

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Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.  
Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.  


The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. There is extreme variation in clinical symptoms based on genetic basis and subtypes<ref>Radiopedia [https://radiopaedia.org/articles/osteogenesis-imperfecta-1 Osteogenesisi Imperfecta] Available: https://radiopaedia.org/articles/osteogenesis-imperfecta-1<nowiki/>(accessed 15.10.2021)</ref>.  
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. There is extreme variation in clinical symptoms based on genetic basis and subtypes<ref name=":0">Radiopedia [https://radiopaedia.org/articles/osteogenesis-imperfecta-1 Osteogenesisi Imperfecta] Available: https://radiopaedia.org/articles/osteogenesis-imperfecta-1<nowiki/>(accessed 15.10.2021)</ref>.  


The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. The multidisciplinary approach to the treatment of children and young people living with OI seeks to provide well-coordinated, comprehensive assessments, and interventions that place the child and family at the very center of their care. The coordinated efforts of a multidisciplinary team can support children with OI to fulfill their potential, maximizing function, independence, and well-being.<ref>Marr C, Seasman A, Bishop N. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388361/ Managing the patient with osteogenesis imperfecta: a multidisciplinary approach]. Journal of multidisciplinary healthcare. 2017;10:145.Available: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388361/ (accessed 15.10.2021)</ref>
The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. The multidisciplinary approach to the treatment of children and young people living with OI seeks to provide well-coordinated, comprehensive assessments, and interventions that place the child and family at the very center of their care. The coordinated efforts of a multidisciplinary team can support children with OI to fulfill their potential, maximizing function, independence, and well-being.<ref>Marr C, Seasman A, Bishop N. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388361/ Managing the patient with osteogenesis imperfecta: a multidisciplinary approach]. Journal of multidisciplinary healthcare. 2017;10:145.Available: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388361/ (accessed 15.10.2021)</ref>


'''<u>Type I (most common form)</u>'''<br>
== Types of OI ==
Three main types are easily distinguished


*Mildest form of OI
Type I. Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities
*Mild to moderate fragility without deformity
*Most [[Fracture|fractures]] occur before puberty
*Associated with blue sclerae, triangular face, hearing loss (beginning in the twenties or thirties), easy bruising<br>


[[Image:Blue sclera.jpg|center|This picture is included courtesy of img.tfd.com.]]<u>'''Type II'''</u><br>
Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth


*Most severe form of OI (perinatal lethal)
Type III. Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby<ref>John Hopkins OI Available: https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta (accessed 15.10.2021)</ref>.
*Stillbirth or death during infancy or early childhood
*Extreme fragility of connective tissue
*Multiple in utero fractures  
*Usually intrauterine growth retardation
*Severe bone deformity
*Soft, large cranium
*Micromelia: long bones crumpled and bowed; [[ribs]] beaded&nbsp;


<u>'''Type III'''</u>  
Types IV to VIII are variable in severity and uncommon<ref name=":0" />


*Moderately Severe &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;&nbsp;&nbsp;
== Epidemiology ==
*Progressive deformities
The estimated incidence is approximately 1 in every 12,000-15,000 births 2. Osteogenesis imperfecta occurs with equal frequency among males and females and across races and ethnic groups. The lifespan varies with the type. <ref name=":0" />
*[[Scoliosis]]
*Triangular face, large skull
*Severe [[osteoporosis]]
*Severe fragility of bones; usually in utero fractures
*Fractures heal with deformity and bowing
*Associated with tinted sclerae (blue, purple, or grey)
*Extremely short stature
*Usually wheelchair bound by teenage years


[[Image:Lg wyse family.jpg|center|This picture of the Wyse family is included courtesy of the Agape Family Life House website agapeflh.org.]]
== Etiology ==
Osteogenesis imperfecta is a rare genetic disease. In the majority of cases, it occurs secondary to mutations in the ''COL1A1'' and ''COL1A2'' genes. More recently, there has been the identification of diverse mutations related to OI.<ref>Subramanian S. StatPearls Publishing LLC.; Treasure Island, FL, USA: 2021. [https://www.ncbi.nlm.nih.gov/books/NBK536957/ Osteogenesis Imperfecta.]Available:https://www.ncbi.nlm.nih.gov/books/NBK536957/ (accessed 15.10.2021)</ref><br>


<u>'''Type IV'''</u><br>
[[Image:Lg wyse family.jpg|center|This picture of the Wyse family is included courtesy of the Agape Family Life House website agapeflh.org.]]<br>  
 
*Variable but usually milder course; normal or near-normal lifespan
*Mild to moderate skeletal fragility and osteoporosis (more severe than type I)
*Associated with bowing of long bones
*Barrel-shaped rib cage
*Bones fracture easily before puberty; some children improve at puberty
*Light or normal sclerae; may or may not have moderately short stature and [[Joint Classification|joint]] hyperextensibility"<ref name="Goodman">Goodman CC, Fuller KS. Pathology: Implications for the Physical Therapist. 3rd edition. St. Louis, Missouri: Saunders Elsevier, 2009.</ref>
 
<br>  


Below is a documentary from the Discovery Channel titled "Children of Glass" courtesy of Youtube.com.  
Below is a documentary from the Discovery Channel titled "Children of Glass" courtesy of Youtube.com.  
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   <div class="col-md-6"> {{#ev:youtube|QvbY7XqyMz8|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]</ref></div></div>
   <div class="col-md-6"> {{#ev:youtube|QvbY7XqyMz8|300}} <div class="text-right"><ref>Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]</ref></div></div>


== Prevalence  ==
<br>  
 
Currently, it is estimated that there are around 30,000 to 50,000 people in the United States living with osteogenesis imperfecta. The majority of kids with osteogenesis imperfecta inherit the genetic mutation from one of their parents. A parent that carries the OI genetic mutation has a 50% chance of passing this defect to their children. Around 25% fall in the category of children who have had spontaneous gene mutations leading to the diagnosis of OI.<ref name="Goodman" /> Osteogenesis imperfecta type I is the most common and has been found to be the type for around 50% of the people that have OI.<ref name="Kennedy">Kennedy Krieger Institute. About Osteogenesis Imperfecta; 2010. Available from:  [http://www.osteogenesisimperfecta.org/about-osteogenesis-imperfecta.php Ahttp://www.osteogenesisimperfecta.org/about-osteogenesis-imperfecta.php]. (accessed 1 March 2010)</ref> The incidence of OI in the United States is about 1 in 20,000 people<ref>Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Pediatr. 1988;35:391-426.</ref>and around 6 to 7 in 100,000 people worldwide.<ref name="NIH">National Institute of Health. Genetics Home Reference - Osteogenesis Imperfecta. 2020 http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta. (accessed 27 August 2020).</ref><br>  


== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==
Due to the different classifications, a patient with osteogenesis imperfecta can present anywhere from appearing normal with fractures that occur occasionally, to someone very small in stature with deformities to both the spine and long bones throughout the body.<ref name="Goodman" /> The clinical presentation of patients with OI is easier to picture when broken down into the four primary classifications.
===== <u>'''Type I'''</u> =====
<div class="row"><div class="row">
<div class="row"><div class="row">
*Due to only 50% of the collagen being produced, the patient's bones are predisposed to fracture. Most fractures in this classification occur before the child reaches puberty.<ref name="Goodman" /><br>
*Lax Joints<br>
*Low muscle tone<br>
*Tinted sclerae that may appear to be slightly blue, grey, or purple<br>
*Possible scoliosis<br>
*Stature should not be affected much, if at all<br>
*Possible hearing loss that usually occurs in the third or fourth decade of life<br>
*Triangular shaped face<br>
*Very mild to no bony deformities<br>
*Teeth may be brittle and easily broken<ref name="OIF">Osteogenesis Imperfecta Foundation. OI: Guide for Medical Professionals, Individuals, and Families.; 1999. Available from: http://www.oif.org/site/PageServer?pagename=Guidefor. (Accessed 1 March 2010).</ref><br>
===== '''<u>Type II</u>''' =====
<div class="row"><div class="row">
<div class="row"><div class="row">
*Due to only 20% of the normal amount of collagen being produced due to malformation, this is the most severe type of OI.<ref name="Goodman" />
[[Image:Deformed Long Bone X-ray.jpg|right|This picture is included courtesy of MyPACS.net]]
*Usually results in stillbirth or death occurring in the early years of childhood. There have been a few people with type II OI that have survived into young adulthood.
*Respiratory problems that can lead to death[[Image:Deformed Long Bone X-ray.jpg|right|This picture is included courtesy of MyPACS.net]]  
*Severe bone deformities<ref name="OIF" />
*Multiple in utero fractures
*Soft, large cranium
*Micromelia: long bones that are crumpled and bowed; ribs beaded"<ref name="Goodman" />


===== <u>'''Type III'''</u> =====
===== <u>'''Type III'''</u> =====
<div class="row"><div class="row">
<div class="row"><div class="row">
*Very short stature
g [[Image:Deformed Bones X-ray.jpg|This picture is included courtesy of uhrad.com]]<div class="row"><div class="row">
*Triangular face
*Easily fractured bones
*Scoliosis
*Tinted sclerae that may appear to be slightly blue, grey, or purple
*Barrel-shaped chest
*Teeth may be brittle and easily broken
*Possibility of problems with respiration
*Possible hearing loss
*Increased joint laxity<ref name="OIF" />
*"Severe osteoporosis
*Fractures heal with deformity and bowing [[Image:Deformed Bones X-ray.jpg|This picture is included courtesy of uhrad.com]]  
*Large skull
*Usually in utero fractures
*Usually wheelchair bound by teenage years"<ref name="Goodman" />
 
===== <u>'''Type IV'''</u> =====
<div class="row"><div class="row">
*More severe than type I and less severe than type III
*Short stature that is not as extreme as type III
*Barrel shaped chest
*Scoliosis
*Sclerae are normal
*Triangular shaped face
*Teeth may be brittle and fracture easily
*Skin may be thin and smooth
*Possible hearing loss
*Bruises easily
*High pitched voice
*May perspire excessively<ref name="OIF" />
*Mild to moderate skeletal fragility and osteoporosis
*Associated bowing of long bones
*Bones fracture easily before puberty; some children improve at puberty
*Joint Hyperextensibility<ref name="Goodman" />
 
===== '''<u>Types V</u>'''<ref name=":0">Bell DJ, Farooq S, et al. Osteogenesis imperfecta classification. Available from: https://radiopaedia.org/articles/osteogenesis-imperfecta-classification-1 (Accessed 28 August 2020)
</ref> =====
<div class="row"><div class="row">
<div class="row"><div class="row">
* Type V is like type IV in features and symptoms of OI and has a dominant pattern of inheritance.
* Development of large hypertrophic calluses at the fracture or surgical procedure site.
* Limited forearm rotation due to the interosseous membrane calcification between the radius and ulna which could lead to radial head dislocation.


===== <u>'''Types VI'''</u><ref name=":0" /> =====
<div class="row"><div class="row">
<div class="row"><div class="row">
* It is extremely rare,
* Moderate in severity
* The appearance and symptoms are similiar to Type IV; the difference is the characteristic mineralization defect in biopsied bone. 
* Unknown mode of inheritance.
===== <u>'''Types VII and VIII'''</u><ref name=":0" /> =====
<div class="row"><div class="row">
<div class="row"><div class="row">
* The two are the recently identified types of OI.
== Diagno ==
* They have a recessive pattern of inheritance OI has been discovered in people with lethal, severe, and moderate OI.
* Accounts for less than 10 percent of OI cases.
* Some OI type VII is similar in appearance and symptoms of type IV.
* Others look like OI type II, except the face is round with small heads and white sclerae.
* Cases of OI type VIII resemble OI types II or III in appearance and symptoms but the sclerae are white.
 
== Associated Co-morbidities  ==
 
*Joint hypermobility<br>
*Hearing impairment/Loss
*Excessive diaphoresis
*Cardiovascular complications
*Scoliosis
*Pectus deformity
*Metabolic defects
*Atrophy of muscles
*Multiple fractures
*Delayed developmental motor skills
*Spinal and long bone deformities
*Shortened stature<ref name="Goodman" />
 
== Medications  ==
 
<u>'''Past Pharmacological Treatment Options'''</u><br>
 
The following medications have been not been proven to be effective for OI in controlled trials.<br>
 
*Anabolic Steroids
*Vitamin D
*Vitamin C
*Sodium Fluoride
*Magnesium Oxide
*Flavanoids
*Calcitonin
 
<u>'''Current Pharmalogical Treatment'''</u><br>
 
*Growth Hormone - This is used to improve bone metabolism and to improve growth for statural purposes.<br>
*Bisphosphonates - These are used to "promote bone mineral accretion while at the same time reducing bone turnover."<ref name="Antoniazzi">Antoniazzi F, Mottes M, Franschini P, Brunelli PC, Tato L. Osteogenesis Imperfecta Practical Treatment Guidelines. Paediatr Drugs; 2(6): 465-488. 2000.</ref><br>
 
<br>
 
== Diagnostic Tests/Lab Tests/Lab Values  ==
 
The diagnosis of osteogenesis imperfecta generally begins with the physician's findings during an examination. Physicians may find evidence of skeletal deformities accompanied by multiple past fractures that have healed using x-rays or bone scans. Wormian bodies, which are irregularly shaped islands of bone found in the wide sutures on skull radiographs of patients with OI, may also be present.<ref name="Goodman" /> Other ways to help confirm the diagnosis of OI include a history of osteogenesis imperfecta in the family, a skin biopsy, DNA testing, and ultrasound imaging before the child is born. Although OI is not always passed down from the parents, this would help the physician come to a conclusion because if one of the parents have OI, they have a 50% chance of passing this along to their child. A skin biopsy is used to determine if there is enough type I collagen or if the collagen is abnormal. DNA testing is accomplished by means of a blood test that is examined to locate the genetic mutation. Ultrasound imaging can be used to help diagnose OI before the child is born. The more severe the type of OI, the earlier ultrasound imaging can detect the fractures and deformities. By 14-16 weeks, type II OI is usually possible to diagnose. Type III OI is possible to diagnose around 16-18 weeks gestation. Types I and IV are generally not diagnosed with ultrasound.<ref name="OIF" /><br>
 
[[Image:X-ray OI.jpg|center|This picture is included courtesy of gghjournal.com.]]  
[[Image:X-ray OI.jpg|center|This picture is included courtesy of gghjournal.com.]]  


== Causes  ==
[[Image:Sean.jpg|center|This image of Sean Stephenson is included courtesy of http://26.media.tumblr.com.]]
 
*[http://www.seibertdc.com/Content-2/Case+Study.html Yochum TR, Kulbaba S, Seibert RE. Osteogenesis Imperfecta in a Weightlifter. Journal of Manipulative and Physiological Therapeutics; 25: 334-339. 2002.]<br>
Osteogenesis imperfecta is a genetic disorder that can be caused by inheritance from a parent with OI, or a random genetic mutation. The genetic disorder in most cases is passed from one of the parents to the child through autosomal dominant inheritance.<ref name="Goodman" /> This means that one copy of the mutated gene in each cell is enough to cause the osteogenesis imperfecta. This type of inheritance is usually the cause for most people with type I or type IV OI. Random mutation of the COL1A1 or COL1A2 gene may also occur. These children have no family history of OI and tend to have either type II or type III osteogenesis imperfecta, which are more serious. The least common way that osteogenesis imperfecta is caused by autosomal recessive inheritance. This is when each cell has two copies of the mutated gene. This cause occurs by two people that are carriers of the mutated gene passing one copy each to a child. This cause usually results in a child with type III OI.<ref name="NIH" /><br>
*[http://www.cfp.ca/cgi/reprint/51/12/1655 Strevel EL, Adachi JD, Papaioannou A, McNamara M. Case Report: Osteogenesis Imperfecta Elusive Cause of Fractures. Canadian Family Physician; 51: 1655-1657.2005.]<br>
 
*[http://www.kjm.keio.ac.jp/past/53/4/251.pdf Iwamoto J, Takeda T, Sato Y. Effect of Treatment With Alendronate in Osteogenesis Imperfecta Type I: A Case Report. The Keio Journal of Medicine; 53 (4): 251–255. 2004.]<br>
[[Image:Sean.jpg|center|This image of Sean Stephenson is included courtesy of http://26.media.tumblr.com.]]  
 
== Systemic Involvement  ==
 
<u>'''Gastrointestinal'''</u>
 
*Constipation that may be caused due to pelvic asymetry in more serious forms of OI.
*Difficulties swallowing solid foods in more serious forms of OI.<ref name="Nutrition">Osteogenesis Imperfecta Foundation. OI Issues: Nutrion. http://www.oif.org/site/PageServer?pagename=Nutrition. Website updated: 2007. Website accessed: April 5, 2010.</ref>
 
<br><u>'''Cardiac'''</u>
 
*Heart valve problems such as aortic valve insufficiency, aortic aneurysm, mitral valve regurgitation, and mitral valve prolapse.<ref name="NIAMS">National Institute of Arthritis and Musculoskeletal and Skin Diseases. Osteogenesis Imperfecta: A Guide for Nurses. http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/nurses_guide.asp#PTOT. Website updated: 2005. Website accessed: April  4, 2010.</ref>
 
<br><u>'''Respiratory'''</u>
 
*Restrictive pulmonary disorder is common in people with severe forms of OI.
*Pulmonary complications due to rib fractures, weakness of the muscles in the chest wall, chronic bronchitis, pneumonia, asthma and heart valve disorders.
 
<br>
 
<u>'''Neurological'''</u>
 
*Basilar invagination of the base of the skull may occur in OI patients in the adult years and cause complications with the brain stem.
 
<u>'''<br>Renal'''</u>
 
*Kidney stones have at times been associated with osteogenesis imperfecta.<ref name="NIAMS" /> <br>
 
<br>
 
<u>'''Integumentary'''</u>
 
*Patients with OI may have thin skin.
*Excessive diaphoresis may be apparent.
 
<br>
 
'''<u></u>'''
 
'''<u>Metabolic</u>'''
 
*Elevated serum pyrophoshate<br>
 
*Decreased platelet aggregation
 
<br><u>'''Auditory'''</u><br>
 
*Hearing loss/impairment is a common occurence in patients with OI. This can occur from deformity of the bony auditory structures.<ref name="Goodman" /> This can also be caused by a fracture of the stapes bone.<ref name="Stapes">ALbahnasawy L, Kishore A, O’Reilly BF. Results of stapes surgery on patients with osteogenesis imperfecta. Clin. Otolarygol; 26: 473-476. 2001.</ref><br>
 
<br>
 
<u>'''Vision'''</u><br>
 
*Sclera may be blue, purple, or grey tinted.
*Vision loss can occur.<ref name="Kennedy" />
 
<br>
 
<u>'''Musculoskeletal'''</u>
 
*Muscular atrophy
*Joint hypermobility<br>
*Multiple fractures<ref name="Goodman" /><br>
 
<br>
 
<u>'''Pain'''</u>
 
*"It is a myth that patients with osteogenesis imperfecta feel less pain than patients without OI."<ref name="NIAMS" /><br>
 
== Medical Management (current best evidence)  ==
 
The current best evidence for the medical management of osteogenesis imperfecta can depend on the form of OI and the severity its effect has been on the patient. With multiple fractures to long bones causing deformity of the bones, it can be impossible in some patients to achieve any weight bearing for ambulation. To best help with the gross deformation of the structure of long bones there is a surgical intervention that is called rodding. This procedure is most often performed in the femurs and tibiae. Rodding consist of realigning the long bone and inserting an intermedullary metal rod. This will promote the bone to hear to appear more like a normally shaped long bone and will improve the chances of the child to be able to functionally bear weight and improve chances of self ambulation.<ref name="Antoniazzi" /> Rodding does not help to improve the fragility of the long bones and further medical treatment is still needed.
 
Bisphosphonates such as Pamidronate are used to decrease the amount of bone resorption. Studies have found that children with OI that are given Pamidronate intravenously every one to four months have shown decreases in bone pain, an increased sense of well being, and rise in vertebral bone mass. It has been found that the child's vertebrae can regain a normal shape and size. Studies found that these Pamidronate infusions lead to a significant decrease in fractures and can improve a person's functional mobility. The uses of other bisphosphonates, such as Alendronate and Olpadronate, have also shown to make some improvements. There is not much evidence supporting the use of one bisphosphonate over another, but intravenous Pamidronate has been the one to show the most improvement with bone pain. Studies have also found that the use of bisphosphonates can impede the healing of osteotomy sites from the procedure of rodding. Bisphosphonates are not a cure for OI but need to be used in addition to physical therapy and orthopedic care.<ref name="Francis">Francis GH. Treatment of Osteogenesis Imperfecta: Who, Why, What?. Hormone Research; 68(5):8-11. 2007.</ref><br>
 
With research continuing in the areas of allogenic bone marrow transplantation there has been positive findings showing increased bone mineral content and new bone formation. There is also research being done in the area of gene therapy.<ref name="Goodman" />
 
== Physical Therapy Management (current best evidence)  ==
 
Physical therapy management for osteogenesis imperfecta can help prevent disuse atrophy of muscle and disuse loss of bone mass. It has also been found that physical therapy can strengthen muscles and even increase bone density in patients with OI.<ref name="Goodman" /> Physical therapy may also help cardiovascular fitness, mental alertness, improved sleep, weight control, ability to fight infection, decrease the chance of certain cancers, and improve activities of daily living. Physical therapy should begin as soon as the child begins to show signs of muscular weakness or motor skills are being accomplished later than other children of the same age.<ref name="NIAMS2">National Institute of Arthritis and Musculoskeletal and Skin Diseases.  Exercise and Activity: Key Elements in the Management of OI. http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/exercise_activity.asp. Website updated: 2009. Website accessed: April 5, 2010.</ref>
 
Physical therapy intervention should include light resistance exercises to strengthen the hips and the core. A combination of hip extension, hip abduction, spinal musculature strengthening, and an aquatic exercise program twice a week has been found to increase the patient's ability to achieve an upright position and ambulate. Positioning is important in the care of children with OI. Neutral positioning of the head, trunk, and extremities with the hips in extension is the correct positioning. In more severe cases the prone position should be avoided.
 
Physical therapy management may also include the selection and adaptation of ambulation devices that are safe and beneficial to the patients. Adaptive equipment, even powered wheelchairs, may be essential for the child to have as much independence as possible.<ref name="Goodman" /> &nbsp;
 
== Dietary Management ==
 
Many resources have stated the importance of nutrition for patients with osteogenesis imperfecta. Patients with OI need to get adequate amounts of calcium, vitamin D, and vitamin C. Calcium is needed to develop peak bone mass and help prevent bone loss. Vitamin D is responsible for helping the body to absorb calcium and may also be involved proper functioning of the immune system. Low levels of Vitamin D may also have a role in chronic pain. Vitamin C is involved in the production of healthy connective tissues, and assists in the healing of wounds and fractures which is very important for patients with OI.
 
Calcium is found in dairy products and other foods such as broccoli, kale, dried beans, nuts, and soy products. Vitamin D is mainly absorbed from sunlight through the skin but can also be found in fortified foods and dietary supplements. Vitamin C is found in many fruits and Vegetables such as citrus fruits, cantaloupe, strawberries, sweet potatoes, tomatoes, and bell peppers.<ref name="Nutrition" />
 
== Differential Diagnosis  ==
 
The differential diagnosis for osteogenesis imperfecta can be grouped into stages of life that the differential diagnoses occur.<br>
 
<u>'''<br>'''</u>
 
<u>'''Prenatal/Neonatal'''</u>
 
*"Thanatophoric dysplasia
*Jeune dystrophy
*Achondroplasia
*Camptomelic dysplasia
*Chondrodysplasia punctata
*Chondroectodermal dysplasia (Ellis–van Creveld syndrome)
*Nonaccidental injury
*Menkes kinky-hair syndrome
*Menkes Kinky Hair Disease<br>
*Hypophosphatasia"<br>
 
<br>
 
<u>'''Preschool/Childhood'''</u><br>
 
*"Pyknodysostosis
*Hajdu-Cheney syndrome
*Osteopetrosis
*Vitamin D–resistant rickets
*Osteochondromatosis<br>
*Secondary osteoporosis (immobilization)
*Rickets
*Scurvy
*Leukemia
*Cushing syndrome
*Nonaccidental injury"
 
<br>
 
<u>'''Adolescence/Adulthood'''</u>
 
*"Mafucci syndrome
*Homocystinuria
*Albright hereditary osteodystrophy
*Wilson disease"<ref name="Emedicine">Emedicine. Osteogenesis Imperfecta: Differential Diagnosis &amp; Workup. http://emedicine.medscape.com/article/1256726-diagnosis. Website updated: 2008. Website accessed: April 5, 2010.</ref>
 
<br>
 
Milder forms of osteogenesis imperfecta may not be diagnosed early and can often be mistaken for child abuse by physicians.<ref name="Gahagan">Gahagan S, Rimsza ME. Child Abuse or Osteogenesis Imperfecta: How Can We Tell?. Journal of Pediatrics; 88(5): 987-992. 1991.</ref>
 
== Case Reports  ==
 
*[http://www.seibertdc.com/Content-2/Case+Study.html Yochum TR, Kulbaba S, Seibert RE. Osteogenesis Imperfecta in a Weightlifter. Journal of Manipulative and Physiological Therapeutics; 25: 334-339. 2002.]<br>  
*[http://www.cfp.ca/cgi/reprint/51/12/1655 Strevel EL, Adachi JD, Papaioannou A, McNamara M. Case Report: Osteogenesis Imperfecta Elusive Cause of Fractures. Canadian Family Physician; 51: 1655-1657.2005.]<br>  
*[http://www.kjm.keio.ac.jp/past/53/4/251.pdf Iwamoto J, Takeda T, Sato Y. Effect of Treatment With Alendronate in Osteogenesis Imperfecta Type I: A Case Report. The Keio Journal of Medicine; 53 (4): 251–255. 2004.]<br>  
*[http://www.atcs.jp/pdf/2002_8_1/51.pdf Aoki T, Kuraoka S, Ohtani S, Kuroda Y. Aortic Valve Replacement in a Woman with Osteogenesis Imperfecta. Annals of Thoracic and Cardiovascular Surgery; 8(1): 51-53. 2002.]
*[http://www.atcs.jp/pdf/2002_8_1/51.pdf Aoki T, Kuraoka S, Ohtani S, Kuroda Y. Aortic Valve Replacement in a Woman with Osteogenesis Imperfecta. Annals of Thoracic and Cardiovascular Surgery; 8(1): 51-53. 2002.]
   
   
== Resources   ==
== Resources ==


*http://www.oif.org<br>  
*http://www.oif.org<br>
*http://www.genome.gov/25521839  
*http://www.genome.gov/25521839
*http://www.osteogenesisimperfecta.org  
*http://www.osteogenesisimperfecta.org
*http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html  
*http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
*http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta<br>  
*http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta<br>
*http://www.brittlebone.org<br>
*http://www.brittlebone.org<br>


== References   ==
== References ==


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<references />  


     [[Category:Bellarmine_Student_Project]]  
     [[Category:Bellarmine Student Project]]  


[[Category:Paediatrics]]
[[Category:Paediatrics]]
[[Category:Paediatrics - Conditions]]
[[Category:Paediatrics - Conditions]]

Revision as of 23:28, 14 October 2021

Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Barrett Mattingly, Lucinda hampton, Jess Bell, Admin, Uchechukwu Chukwuemeka, Kim Jackson, Robin Tacchetti, Kirenga Bamurange Liliane, Dave Pariser, WikiSysop, Meaghan Rieke, Anna Fuhrmann, 127.0.0.1, Heidi Johnson Eigsti, Elaine Lonnemann and Wendy Walker  

Introduction[edit | edit source]

Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.

The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. There is extreme variation in clinical symptoms based on genetic basis and subtypes[1].

The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. The multidisciplinary approach to the treatment of children and young people living with OI seeks to provide well-coordinated, comprehensive assessments, and interventions that place the child and family at the very center of their care. The coordinated efforts of a multidisciplinary team can support children with OI to fulfill their potential, maximizing function, independence, and well-being.[2]

Types of OI[edit | edit source]

Three main types are easily distinguished

Type I. Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities

Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth

Type III. Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby[3].

Types IV to VIII are variable in severity and uncommon[1]

Epidemiology[edit | edit source]

The estimated incidence is approximately 1 in every 12,000-15,000 births 2. Osteogenesis imperfecta occurs with equal frequency among males and females and across races and ethnic groups. The lifespan varies with the type. [1]

Etiology[edit | edit source]

Osteogenesis imperfecta is a rare genetic disease. In the majority of cases, it occurs secondary to mutations in the COL1A1 and COL1A2 genes. More recently, there has been the identification of diverse mutations related to OI.[4]

This picture of the Wyse family is included courtesy of the Agape Family Life House website agapeflh.org.


Below is a documentary from the Discovery Channel titled "Children of Glass" courtesy of Youtube.com.

[5]
[6]
[7]
[8]


Characteristics/Clinical Presentation[edit | edit source]

This picture is included courtesy of MyPACS.net
Type III[edit | edit source]
g This picture is included courtesy of uhrad.com

Diagno[edit | edit source]

This picture is included courtesy of gghjournal.com.
This image of Sean Stephenson is included courtesy of http://26.media.tumblr.com.

Resources[edit | edit source]

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 Radiopedia Osteogenesisi Imperfecta Available: https://radiopaedia.org/articles/osteogenesis-imperfecta-1(accessed 15.10.2021)
  2. ↑ Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of multidisciplinary healthcare. 2017;10:145.Available: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388361/ (accessed 15.10.2021)
  3. ↑ John Hopkins OI Available: https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta (accessed 15.10.2021)
  4. ↑ Subramanian S. StatPearls Publishing LLC.; Treasure Island, FL, USA: 2021. Osteogenesis Imperfecta.Available:https://www.ncbi.nlm.nih.gov/books/NBK536957/ (accessed 15.10.2021)
  5. ↑ Bublitz Videos. Children of Glass - (Part 1 of 4). Available from: http://www.youtube.com/watch?v=TpAMTOud3bw [last accessed 27/8/2020]
  6. ↑ Bublitz Videos. Children of Glass - (Part 2 of 4). Available from: http://www.youtube.com/watch?v=GTpSxlPzC8k [last accessed 37/8/2020]
  7. ↑ Bublitz Videos. Children of Glass - (Part 3 of 4). Available from: http://www.youtube.com/watch?v=L2f8fz6vzoI [last accessed 27/8/2020]
  8. ↑ Bublitz Videos. Children of Glass - (Part 4 of 4). Available from: http://www.youtube.com/watch?v=QvbY7XqyMz8 [last accessed 27/8/2020]
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