osteogenesis imperfecta type 7

Osteogenesis Imperfecta Type VII: A Rare and Severe Form of Brittle Bone Disease

Osteogenesis imperfecta (OI) type VII is a rare and severe form of brittle bone disease, characterized by extremely fragile bones that break or fracture easily [1]. It is an autosomal recessive form of OI, meaning that it is inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [3].

Individuals with OI type VII often have shorter than normal height and may also experience fractures or breaks in their upper arm and thighbones [2]. This form of OI is sometimes considered a lethal form, as it can lead to severe bone fragility and increased risk of fractures, which can be life-threatening [7].

Research has identified that homozygous mutations in the CRTAP gene (located on chromosome 3p22.3) are responsible for OI type VII [7]. This genetic mutation affects the production of a protein essential for bone formation, leading to the characteristic fragile bones and increased risk of fractures.

In summary, OI type VII is a rare and severe form of brittle bone disease, characterized by extremely fragile bones that break or fracture easily. It is an autosomal recessive form of OI, inherited in a specific genetic pattern, and can lead to severe bone fragility and increased risk of fractures.

References:

[1] Context result 3 [2] Context result 2 [3] Context result 7 [7] Context result 7

Osteogenesis imperfecta (OI) type VII, also known as a moderate-to-severe recessive form, is characterized by several distinct signs and symptoms.

• Fractures at birth: Infants with OI type VII may experience fractures at birth or shortly after.
• Bluish sclerae: People with this condition often have bluish tint to the part of the eye that is usually white (the sclera).
• Early deformity of the lower extremities: Deformities in the lower limbs, such as bowing of the legs, may be present from an early age.
• Coxa vara: A condition where the angle between the ball and socket of the hip joint is reduced, leading to a shortening of the leg.

These symptoms can vary in severity and may be accompanied by other signs and symptoms associated with OI. It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

References: * [9] Type VII: this is a moderate-to-severe recessive form, characterised by fractures at birth, bluish sclerae, early deformity of the lower extremities, coxa vara ... * [11] Osteogenesis imperfecta type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

Osteogenesis Imperfecta (OI) Type 7, also known as CRTAP-Related OI, is a rare genetic disorder characterized by fragile bones that break or fracture easily.

Diagnostic Tests for OI Type 7:

• Genetic Testing: DNA blood testing can be performed to detect the presence of mutations in the CRTAP gene, which is associated with OI Type 7. This test has an accuracy of 60-94% [6].
• Bone Density Tests: These tests can help assess the density and strength of bones, which are often affected in individuals with OI.
• Skin Biopsy for Protein Electrophoresis: Although not a routine test, skin biopsies may be indicated when DNA testing is inconclusive or to evaluate the amount and structure of collagen [13].
• Imaging Tests: X-rays and other imaging tests can help identify bone deformities, fractures, and other characteristic features of OI.

Important Considerations:

• Genetic testing for OI Type 7 may be performed in pregnancies with a risk of OI to confirm the diagnosis before birth.
• The accuracy of genetic testing for OI Type 7 is relatively high, but it's essential to consult with a healthcare provider or genetics professional for accurate interpretation and guidance.

References:

[6] DNA blood testing for gene defects has an accuracy of 60-94% [Context #6] [13] Skin biopsies for protein electrophoresis are not routine but may be indicated when DNA testing is inconclusive [Context #13]

Treatment Options for Osteogenesis Imperfecta Type VII

Osteogenesis imperfecta (OI) type VII, also known as brittle bone disease, is a rare and severe form of the condition. While there is no cure for OI, various treatment options can help manage symptoms and improve quality of life.

• Bisphosphonate therapy: This is one of the most promising treatments for OI type VII. Bisphosphonates are medications that help strengthen bones and prevent fractures. They may be given by mouth or through an IV infusion (1, 5, 6).
• Pamidronate treatment: In severe cases, IV pamidronate can be effective in relieving pain and preventing further bone damage (3).

Multidisciplinary care

In addition to medication, a multidisciplinary approach is recommended for managing OI type VII. This includes:

• Physical therapy: Regular exercise and physical therapy can help maintain muscle strength and mobility.
• Rehabilitation: A rehabilitation program can help patients with OI type VII adapt to their condition and improve overall well-being.
• Bracing and surgical interventions: In some cases, bracing or surgery may be necessary to stabilize bones and prevent further damage (8).

New therapies being investigated

Researchers are exploring new therapies for OI type VII, including gene therapy and other innovative treatments. These emerging options hold promise for improving outcomes and quality of life for individuals with this condition.

References:

[1] Dec 20, 2021 — OI treatments are designed to prevent or control symptoms and may include fracture care, physical therapy, bracing, surgery, and medication. [3] Mar 18, 2024 — IV pamidronate is effective in babies and can be used to relieve pain in severe cases. Good evidence suggests that bisphosphonate therapy may ... [5] Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. They may be given by ... [6] by SH Ralston · 2020 · Cited by 103 — Bisphosphonates have been widely used in the treatment of children and adults with OI. Although there is good evidence that they increase BMD, ... [8] Multidisciplinary care including physiotherapy, rehabilitation, bracing and surgical interventions is recommended. ... New therapies are being investigated which ...

Osteogenesis Imperfecta Type VII (OI) is a moderate-to-severe recessive form of the condition, characterized by fractures at birth, bluish sclerae, early deformity of the lower extremities, coxa vara, and osteopenia [5]. When considering differential diagnosis for OI Type VII, several conditions should be taken into account:

• Suspected physical abuse (previously termed non-accidental injury or NAI): This is a crucial consideration in infants with fractures at birth, as it can mimic the presentation of OI Type VII. A thorough investigation and assessment by child protection services are essential to rule out this possibility [6].
• Osteopenia of prematurity: Premature infants may present with osteopenia due to their early birth, which can be mistaken for OI Type VII. However, a detailed medical history and radiographic findings should help differentiate between the two conditions.
• Osteomalacia: This condition is characterized by softening of the bones due to vitamin D deficiency or other metabolic disorders. While it shares some similarities with OI Type VII, such as fractures and osteopenia, the underlying cause and clinical presentation are distinct.

It's essential for healthcare professionals to carefully evaluate each case, considering the patient's medical history, radiographic findings, and laboratory results to arrive at an accurate diagnosis [7].