The diagnosis of osteogenesis imperfecta depends on consistent surveillance of the bones and systemic symptoms due to the variance in the presentation of the disease. Patient history, family history, genetic studies and radiological studies aid in the accurate diagnosis.
A thorough patient and family history is imperative to accurate diagnosis of osteogenesis imperfecta. Many cases of OI have an autosomal dominant inheritance pattern, therefore, a complete family history is a strong component to diagnosis. Avoidance of dangerous situations that may lead to trauma is the best method of prevention.
Glasses with strong frames are advised for both protection from ocular trauma and improving vision. Management of osteogenesis imperfecta requires a multi-disciplinary team due to its systemic manifestation. Musculoskeletal: Physical examination to assess for fractures, deformities and joint laxity.
Cervical spine flexion and extension radiographs may also assess joint laxity and bone functional status. Ophthalmic: Ophthalmologist should monitor any changes in the eye, at least yearly, due to increased risk of glaucoma, reduced thickness of corneal and scleral collagen fibers resulting in low ocular rigidity and risk of ocular hypotony. Dental: Dental examinations are imperative in OI due to the possible mortality from eroding dentition.
Children with OI need to have a dental examination by age years. Audiologic: A formal hearing assessment should be conducted on all individuals at diagnosis. Due to this appropriate psychological therapy and social worker intervention can help improve the quality of life for a patient and their family. Treatment of osteogenesis imperfecta targets reduction of fracture rate, decrease chronic pain, preventing long bone deformities and increasing functional mobility. As the presentation of osteogenesis imperfecta lies on a spectrum, treatment is individualized and requires a multi-modal approach per patient.
Bisphosphonate therapy is the main pharmacological therapy currently available for most forms of OI; however, outcomes from treatment have varied within the different types of bisphosphonates. Bisphosphonates work by decreasing bone resorption which can increase bone mass, bone strength and result in improved function.
It has been used most often in severely affected children. This study did not find a consistent decrease in fractures but there was also no evidence of an increase in fracture rate.
No evidence was found to increase growth, improve mobility and reduce pain. This study particularly focused on osteogenesis type I. Intravenous pamidronate is the most invasive administration of bisphosphonates but it is used in all forms of OI except for type IV.
It has been most studied in infants with severe OI and has been reported to decrease the fracture rate. In addition, complications can include transient asymptomatic hypocalcemia and symptomatic hypocalcemia.
Fractures in OI patients should be treated similarly to children and adults without OI. The casts should be lightweight and small. A collaborative relationship with physical therapy is imperative for the best outcomes with therapy starting as soon as the cast is removed.
Intramedullary rodding is the main treatment option to provide anatomic positioning. If patients are suspected to have a basilar impression, which is a translocation of the upper cervical spine and clivus into the foramen magnum due to skeletal deformity, screening should occur. Patients with OI may develop hearing loss which can be improved with a middle-ear surgery with a prosthetic incus. However, if the hearing loss occurs later in life there may be a sensorineural component that cannot be improved with middle ear surgery.
The prognosis of osteogenesis imperfecta depends on the type of OI and the phenotype from the gene mutation. Osteogenesis Type II is the most lethal, with perinatal fractures and mortality. This allows visualization of the underlying uvea which appears blue. Blue sclera that persists throughout life is a feature of type I osteogenesis imperfecta. Osteogenesis imperfecta type II is a lethal perinatal form that also causes a blue sclera sign.
Skip to main content Skip to table of contents. This service is more advanced with JavaScript available. Permissions Icon Permissions. Figure 1. Open in new tab Download slide. Google Scholar PubMed. All rights reserved. For permissions, please email: journals. Issue Section:. Download all slides. View Metrics. Email alerts Article activity alert. Advance article alerts. The first break usually happens when a child starts walking.
Fractures typically decrease after puberty. Type II osteogenesis imperfecta — babies with type II OI usually are born with many fractures, are very small, and have severe breathing problems. As a result, most will not survive. Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems which can be life-threatening , brittle teeth, a curved spine, ribcage deformities, and other problems.
Type IV osteogenesis imperfecta — people with type IV OI can have mild to serious bone deformities, short stature, frequent fractures which may lessen after puberty , and a curved spine. Besides a family history of OI, doctors look for frequent or unexplained bone fractures, dental problems, blue sclera the white part of the eye , short stature, and other symptoms as signs that a child has OI. In severe cases, prenatal testing such as an ultrasound can detect fractures and bone deformities before a baby is born.
There's no cure for osteogenesis imperfecta. Treatment is based on a child's specific symptoms, and can include physical therapy and mobility aides, occupational therapy , medicine, and surgery.
The goal is to prevent fractures, treat them properly when they do happen, preserve mobility and independence, and strengthen bones and muscles. The treatment team might include a primary care doctor, an orthopedist, rehabilitation specialists, an endocrinologist, a geneticist, a neurologist, and a pulmonologist. Preventing bone fractures is key for people with OI. They can lower their risk of broken bones by:.
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