How does osteogenesis imperfecta cause osteoporosis?
How does osteogenesis imperfecta cause osteoporosis?
People with OI have a gene that carries incorrect instructions for making collagen, a substance that makes bones strong. The gene causes the body to not make enough collagen or the collagen does not work properly. This leads to weak bones that break easily.
How is osteogenesis imperfecta detected?
How do healthcare providers diagnose osteogenesis imperfecta (OI)? If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy. If a parent or sibling has OI, a healthcare provider can test the DNA of the fetus for the presence of an OI mutation.
What is the difference between osteogenesis imperfecta and osteoporosis?
Osteogenesis imperfecta, known as brittle bone disease, is a genetic disease that results in abnormal bone formation. Brittle bone disease is not the same thing as osteoporosis. Osteoporosis is the loss of bone density, but it does not mean the bones are abnormally formed. However, both conditions cause bone fractures.
What are the features of patients with osteogenesis imperfecta?
It is characterized by prenatal fractures, growth deficiency, scoliosis and severe angulation of the lower leg bone (tibia). OI type XX is severe. Features include fractures, severe bowing deformities of the long bones, and possible respiratory failure.
How does osteogenesis imperfecta affect the bones?
Overview. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. The condition affects the body’s ability to produce collagen, a protein in the body’s connective tissue.
Why is sclera blue in osteogenesis imperfecta?
Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.
How does connective tissue contribute to osteogenesis imperfecta?
Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality. If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition.
What does osteogenesis imperfecta look like?
Symptoms of OI include: Easily broken bones. Bone deformities, such as bowing of the legs. Discoloration of the white of the eye (sclera), may be blue or gray in color.
What parts of the body does osteogenesis imperfecta affect?
In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs. Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen.
What cells are affected by osteogenesis imperfecta?
Osteogenesis imperfecta (OI), or brittle-bone disease, is a heterogeneous disorder that affects skeletal tissues in which Type I collagen is the major protein component. The disease results from mutations that affect the genes that encode the polypeptide chains of Type I collagen [1,2].
What causes GREY sclera?
Senile scleral plaques: With age, the sclera can develop calcium deposits. These plaques may appear as gray spots at the 3 and 9 o’clock portions of your sclera. Only rarely can they erode through the conjunctival surface and cause irritation or infection.
Which types of OI have blue sclera?
The Sillence classification discussed the four predominant types of OI (Type I, mild, common, with blue sclera; Type II, perinatal lethal form; Type III, severe and progressively deforming, with normal sclera; and Type IV, moderate severity with normal sclera) (See Table 1).
How does osteogenesis imperfecta affect the bone?
What protein is affected by osteogenesis imperfecta?
OI is caused by defects in or related to a protein called type 1 collagen. Collagen is an essential building block of the body. The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes. Certain gene changes, or mutations, cause the collagen defects.
What does blue sclera indicate?
Bluish sclera is associated with osteogenesis imperfecta, Marfan’s syndrome, Ehlers Danlos syndrome, Blue sclera syndrome (Van der Heave syndrome), incontinentia pigmenti, and many other inherited conditions. [1] The sclera is involved bilaterally in all these conditions and the unilateral appearance is a rarity.
What does GREY sclera mean?
Blue sclera: If the sclera is thinner than normal, blood vessels may show through, giving your eyeballs a blue or gray hue. This may occur in people with certain health conditions.