osteogenesis imperfecta type 17

Osteogenesis imperfecta type 17 (OI type 17) is a rare and severe form of osteogenesis imperfecta, a genetic disorder that affects the bones.

Characteristics of OI Type 17:

• Severe bone fragility and susceptibility to fractures from minimal trauma [4]
• Low bone mass [4]
• Normal cognition [5]

Other Features:

• Severe scoliosis [5]
• Fractures in early childhood, often requiring assisted ambulation or wheelchair dependence [3]

Genetic Basis: OI type 17 is caused by a mutation in the SPARC gene on chromosome 5q33 [6][7]. This genetic defect leads to impaired bone formation and increased bone fragility.

Classification: OI type 17 is classified as an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition [4].

Overall, OI type 17 is a rare and severe form of osteogenesis imperfecta, characterized by severe bone fragility, low bone mass, and normal cognition.

Osteogenesis imperfecta (OI) type 17, also known as brittle bone disease, presents with a range of clinical features that can vary in severity across different types.

Common signs and symptoms:

• Abnormality of limbs: Bowed humerus, thin metacarpal cortices [1]
• Intraventricular hemorrhage: Bleeding within the brain's ventricles [3]
• Soft skin: Skin that is fragile and prone to bruising [1]
• Decreased muscle mass: Weak muscles due to bone fragility [1]

Additional symptoms:

• Dentinogenesis imperfecta (DI): Blue-yellow, small mis-shapen teeth due to a type 1 collagen defect [5]
• Short stature: Individuals with OI may experience growth delays and short stature [4, 10]
• Scoliosis: Abnormal curvature of the spine [4, 10]

Other potential symptoms:

• Hearing loss: Some individuals with OI may experience hearing problems [7]
• Breathing difficulties: Respiratory issues due to bone fragility and scoliosis [7]
• Blue sclerae: The whites of the eyes appear blue instead of white [7]

It's essential to note that the severity and presentation of these symptoms can vary significantly across different types of OI, including type 17. If you have concerns about osteogenesis imperfecta or any related symptoms, consult a medical professional for personalized guidance.

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7 [10] - Context result 10

Diagnostic Tests for Osteogenesis Imperfecta Type 17

Osteogenesis imperfecta (OI) type 17, also known as brittle bone disease, is a genetic disorder that affects the bones and can be diagnosed through various tests. Here are some of the diagnostic tests used to diagnose OI type 17:

• Genetic testing: This test detects single nucleotide and copy number variants in 25 genes associated with osteogenesis imperfecta (OI). It is a non-invasive blood test that can identify the genetic mutation responsible for the condition [8].
• Radiological studies: These studies reveal osteoporosis and the presence of Wormian bones, which are small, irregularly shaped bones found in the skull. Radiographs and other imaging tests can help diagnose OI type 17 [7].
• Bone density tests: These tests measure the density of the bones to determine if they are brittle or fragile.
• Skin biopsy: This test evaluates the amount and structure of collagen in the skin, which can be affected in individuals with OI type 17. However, this test is complicated and not many qualified facilities are available to perform it [15].
• Magnetic resonance imaging (MRI): MRI plays an adjunct problem-solving role in assessing for associated complications, such as basilar invagination [4].

Other diagnostic procedures

In addition to these tests, doctors may also use a combination of the following procedures to diagnose OI type 17:

• A detailed medical history and family history
• Physical examination
• Routine lab testing

It's worth noting that diagnosis is based on skeletal and extra-skeletal clinical findings [7].

Osteogenesis imperfecta (OI) is a genetic disorder that affects the bones, making them fragile and prone to fractures. While there is no cure for OI, various drug treatments can help manage the condition.

Bisphosphonate Therapy

Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta [5]. These medications work by reducing bone turnover, which helps to increase bone mineral density (BMD) and reduce the risk of fractures. IV pamidronate is effective in babies and can be used to relieve pain in severe cases [2].

Cyclic Administration of Intravenous Pamidronate

Studies have shown that cyclic administration of intravenous pamidronate reduces the incidence of fracture and increases BMD, while reducing pain and improving quality of life [3]. This treatment approach has been effective in children with severe OI, even before 3 years of age [7].

Denosumab Therapy

Denosumab is a medication approved for the treatment of postmenopausal osteoporosis and other skeletal disorders in adults. Studies are being conducted to explore its use in children with OI [9]. While there is limited evidence on the effectiveness of denosumab in treating adult OI, it may be considered as an option for some patients.

Teriparatide and Denosumab in Adults

There is limited research on the treatment of adults with teriparatide and denosumab [6]. However, advances have been reported in the surgical management of OI, which may be an option for some patients.

It's essential to note that each patient with osteogenesis imperfecta type 17 should be evaluated individually by a healthcare professional to determine the most suitable treatment plan.