Osteogenesis Imperfecta

BY: MAKENZIE FAILLA

What Is It?

Osteogenesis

Imperfecta is a
dominant trait and is found
on chromosome 17. This
disease is inherited at birth.
It is characterized by
extreme fragility of the
bones.

Symptoms

Malformed bones

Short, small body

Loose joints

Muscle weakness

Sclera (whites of the eyes) that look blue, purple, or gray

Triangular face

Barrel-shaped rib cage

Curved spine

Brittle teeth

Hearing loss (often starting in 20s or 30s)

Breathing problems

Type 1 collagen that does not work well

Not enough collagen.

Oo

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Oo

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Treatments

Unfortunately, there is no cure. Although, surgery is an option of

treatment for patients with OI, but it should be performed only if it
is likely to help and only if you know what your treatment goals
are.

(intramedullary rod placement, surgery to manage basilar impression,

and correction of scoliosis. Soft-tissue surgery is used in specific
circumstances.)

Bibliography

"Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org." Fast Facts Osteogenesis Imperfecta Foundation | OIF.org. N.p., n.d. Web. 01 Dec.
2014.

"Osteogenesis Imperfecta." Genetics Home Reference. N.p., n.d. Web.

30 Nov. 2014.

"Common Disorders." Division of Pediatric Orthopaedics of Morgan

Stanley Childrens Hospital of New York. N.p., n.d. Web. 01 Dec. 2014.

"Osteogenesis Imperfecta ." Osteogenesis Imperfecta. N.p., n.d. Web.

01 Dec. 2014.