Osteogenesis Imperfecta Symptoms

Osteogenesis Imperfecta Symptoms include skeletal dysplasia, osteoporosis, increased brittleness and deformity, blue sclera and hearing loss. It is characterized by great differences in clinical re-emergence of multiple intrauterine fractures and death, light and school-age who have symptoms and survive to old age.

Repeated fracture is characteristic of osteogenesis imperfecta to transverse fractures, spiral fractures of the most common, about 15% of the fractures occurred in the metaphysis. Can have substantial fracture callus proliferation, the majority can be healing, but often residual deformity. Not prone to fracture healing in the repeated sexual deformities increase fracture site, type 3 than 4. Partial atrophy or proliferation may be a change.

4 years old, 70% of the I-type in children with osteogenesis imperfecta independent walk, 1 / 3 of the 4 go or children can climb, and 3 children at this time also can not firmly secured. 10 years old, 80% of the 3 children can be firmly secured independence, 20% of children may be walking a short distance Shui Society. 50% of type 1 and type 4 in children with defects in tooth formation, more than 80% of the formation of 3 children with incomplete teeth. Complicated congenital heart malformations at 3 is also not uncommon. Individual cases can arise hearing impairment that caused by otosclerosis.

Some symptoms of Osteogenesis Imperfecta include follow:

1) increase in bone brittleness. Minor injuries can cause fractures, serious fracture patients showed spontaneous. Congenital type that is in the birth has multiple fractures. Green sticks mostly fracture type, displacement of less pain, heal quickly, depend on the completion of subperiosteal osteoblasts, which often go unnoticed and result in abnormal connectivity. Long bones and ribs for the better part of hair. Many of the deformities caused by fractures and further reduce the length of the bone. After puberty, the trend of decreasing fracture.

2) blue sclera. About 90%. This is because of the sclera in patients with a translucent, you can see the bottom of the choroid due to the color. Scleral thickness and the structural anomaly, and its semi-transparent is because of the nature of collagen fibers caused by changes happen.

3) hearing loss. Often appear 11 to 40 years of age, accounting for about 25%, probably due to hardening ear, attached to the oval window by the stapes footplate and fixed bony ankylosis caused by, but others argue that the auditory nerve is when the pressure caused by the skull base.

4) excessive joint laxity. Especially wrist and ankle. This is because of tendon and ligament collagen organization stunting. Can also have genu valgum, flatfoot. Sometimes there is habitual shoulder dislocation and radial head dislocation and so on.

5) a weak muscle.

6) head and face deformities. Severe dysplasia of the skull, the skull at birth, there is a sense of bladder. After the broad skull, parietal bone and occipital bone prominent, and the two spherical bulging temporal, frontal bone protrusion, have been pushed below the ears, face down into a triangle. Some patients with hydrocephalus.

7) dental dysplasia. Teeth should not very good quality development, primary and permanent teeth may be affected. Teeth yellow, or blue-gray, easy caries and early loss.

8) dwarf. This is shorter than normal because of the development, coupled with multiple fractures of the spine and lower limbs caused by malunion.

9) increase the width of the skin scar, this is because there is defective collagen reason.