Osteogenesis Imperfecta

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Os-T-O-jen-es-is Imperfect-a
Osteogenesis imperfecta (OI for short) is a VERY rare bone disease that causes the bones to be fragile (soft) and easy to break. OI is a very, strange disease. It is a very complex disease that mutates like no body's business! Most people with OI inherit it thru a family member and seldome have multiple medical conditions combined with OI....then you have me. I have types 1 and 4 Osteogenesis imperfecta (practicly unheard of) but I am the only person in my family who has OI. I also have severe scoliosis (unnatural curvature of the spine) an Arnold Chiari malformation (a brain malformation that attaches itself to your spinal chord and causes horrible headaches) anemia (low iron) a circulation disease that I do not know the name of, and a vitamin D deficiency.
Types of OI

Type I:

-OI Type I is the mildest and most common form of the disease.
-Type I is characterized with mild bone fragility, relatively few fractures, and minimal limb deformities.
-Shoulders and elbow dislocations may occur more frequently than in healthy children.
-Some children have few obvious signs of OI or fractures. Others experience multiple fractures of the long bones, compression fractures of the vertebrae, and chronic pain.
-Blue sclerae (the white part of the eye is blue) are often present.
-Typically, a child's stature may be average or slightly shorter-than-average.
-There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but it may occur in early childhood.

Type II:

-OI Type II is the most severe form.
-At birth, infants with OI Type II have very short limbs, small chests, and soft skulls. Their legs are often in a frog-leg position.
-The sclerae are usually very dark blue or gray.
-The lungs are underdeveloped.
-Infants with OI Type II have low birth weights.
-Respiratory and swallowing problems are common.
-Infants with OI Type II usually die within weeks of delivery. A few may survive longer. Cause of death is usually respiratory and cardiac complications.
Type III:

-The degree of bone fragility and the fracture rate vary widely.
-At birth, infants generally have mildly shortened and bowed limbs and small chests.
-Respiratory and swallowing problems are common in newborns.
-There may be multiple long-bone fractures at birth, including many rib fractures.
-Frequent fractures of the long bones, the tension of muscle on soft bone, and the disruption of the growth plates lead to bowing and progressive malformation. Children have a markedly short stature, and adults are usually shorter than 3 feet, 6 inches.
-Spine curvatures, compression fractures of the vertebrae, scoliosis, and chest deformities occur frequently.
-The head is often large relative to body size.
-A triangular facial shape, due to overdevelopment of the head and underdevelopment of the face bones, is characteristic.
-The sclerae may be white or tinted blue, purple, or gray.
Type IV:

-People with OI Type IV are moderately to severly affected.
-Bowing of the long bones is common, but to a lesser extent than in Type III.
-The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may lighten to white later in childhood or early adulthood.
-The child's height may be less-than-average for his or her age.
-It is common for scoliosis, and ligament laxity to be present.
-Triangular facial shape may be present, as well as slightly barrel shaped ribbs.

Type V:

-OI Type V is moderate in severity. It is similar to OI Type IV in terms of frequency of fractures and the degree of skeletal deformity.
-The most conspicuous feature of this type is large, hypertrophic calluses in the largest bones at fracture or surgical procedure sites.
-Hypertrophic calluses can also arise spontaneously.
Type VI:

-OI Type VI is extremely rare. It is moderate in severity and similar in appearance and symptoms to OI Type IV.
-This type is distinguished by a characteristic mineralization defect seen in biopsied bone.The mode of inheritance is probably recessive, but it has not yet been identified.

So that's OI for ya! It sucks! I have mine thru a spontaneous genetic mutation. Yeah that's right I'm a mutant!

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