Osteogenisis Imperfecta (OI)-

disorder of collagen synthesis associated with broad

spectrum of musculoskeletal problems, most notably bowing

and fractures of the extremities, muscle weakness,

ligamentous laxity, and spinal deformities.”

(Binder, 386). Other collagen-containing extraskeletal

tissues, such as the sclerae, the teeth, and the heart

valves are also affected to a variable degree. OI has a

“common feature of bony fragility associated with defective

formation of collagen by osteoblasts and fibroblasts.”

(Smith, 1983, 13) This disease, involving defective

development of the connective tissues, is usually the result

of the autosomal dominant gene, but can also be the result

of the autosomal recessive gene. Spontaneous mutations are

common and the clinical presentation of the disease remains

OI is most commonly referred to as “brittle bones”,

but other names include: fragilitas ossium, hypolasia of

the mesenchyme, and osteopsathyrosis. Osteogenisis

imperfecta is still not completely understood, and while

there have been advances in diagnosing the disease,

child. X-rays are used to show evidence of old fractures

usually slender with short, thin cortices and trabeculae

(fibers of framework), but can also be unusually thin.

Slagboom, P.E. “Collagen Genes and Skeletal Disorders” The

limited to orthopedic procedures and bracing. Treatment

Treatment therefore is predominantly supportive and

head and face, a bilaterally bulging skull, and prominent

is important to diagnose this disease in order to prevent

Most were basically sitters. The majority were totally

including radiography and biochemical studies of cultivated

ultrasound probe, and low echogeneity of the cranium can be

Some topics in this essay:
Type IV, III IV, Patients OI, DEFINITION Osteogenisis, Type II, OI Treatment, Foundation OIF, OI Bone, OI Prenatal, Debrah Morris, iii iv, et al, type ii, types iii iv, types iii, isselbacher 2111, patients oi, loeb 755, osteogenisis imperfecta, brittle bone, type iv, smith et al, al brittle bone, lethal type ii, brittle bone syndrome,