Find information on thousands of medical conditions and prescription drugs.

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure this impairment causes those with the condition to have weak or fragile bones. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
Obesity
Obsessive-compulsive...
Occipital horn syndrome
OCD
Ochronosis
Oculocutaneous albinism,...
Oculopharyngeal muscular...
Odontophobia
Odynophobia
Oikophobia
Olfactophobia
Olivopontocerebellar atrophy
Omenn syndrome
Onchocerciasis
Oncocytoma
Ondine's curse
Opportunistic infections
Oppositional defiant...
Optic atrophy
Optic neuritis
Oral leukoplakia
Ornithosis
Orthostatic intolerance
Osgood-Schlatter disease
Osteitis deformans
Osteoarthritis
Osteochondritis
Osteochondritis dissecans
Osteochondroma
Osteogenesis Imperfecta
Osteomalacia
Osteomyelitis
Osteopetrosis, (generic...
Osteoporosis
Osteosclerosis
Otosclerosis
Otospondylomegaepiphyseal...
Ovarian cancer
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

As a genetic disorder, OI is a autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual (de novo or "sporadic") mutation.

Types

There are four types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type IV, Type III and Type II. A Type V has been proposed based on studies of Type IV.

Type I

  • OMIM 166200 - Type I
  • OMIM 166240 - Type IA

Collagen is normal but not of a high enough quantity:

  • Bones fracture easily, especially before puberty
  • Slight spinal curvature
  • Loose joints
  • Poor muscle tone
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type II

  • OMIM 166210 - Type II

Collagen is not of a sufficient quality or quantity

  • Most cases die before adulthood
  • Severe respiratory problems due to underdeveloped lungs
  • Severe bone deformity and small stature

Type III

  • OMIM 259420 - Type III

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, sometimes even before birth
  • Bone deformity, often severe
  • Respiratory problems possible
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Loose joints
  • Poor muscle tone in arms and legs
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Type IV

  • OMIM 166220 - Type IV

Collagen quantity is sufficient but is not of a high enough quality

  • Bones fracture easily, especially before puberty
  • Short stature, spinal curvature and barrel-shaped rib cage
  • Bone deformity is mild to moderate
  • Discolouration of the sclera (whites of the eyes)
  • Early loss of hearing

Treatment

At present there is no cure for OI so treatment is aimed at maintaining mobility and strengthening bones as much as possible.

Physiotherapy is used to strengthen muscles and improve motility in a gentle manner which minimises bone breakages. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure. One of the biggest problems is that children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

Read more at Wikipedia.org


[List your site here Free!]


Osteogenesis imperfecta
From Ear, Nose & Throat Journal, 4/1/00 by Enrique Palacios

Osteogenesis imperfecta (fragilitas ossium) is an inherited connective tissue disorder characterized by osteoporosis, blue sclera, poor dentition, and mixed deafness. There is severe demineralization of the bone involving the otic capsule, which is remarkably similar to that which occurs in cochlear otosclerosis (otospongiosis). [1] The hearing loss is believed to be the result of encroachment of the reparative vascular and fibrous tissue in and about the cochlea or the result of hemorrhages and microfractures. Despite their differences, osteogenesis imperfecta and cochlear otosclerosis are similar on computed tomography with respect to both fenestral and cochlear manifestations (figure).

Reference

(1.) Swartz JD, Harnsberger HR. The otic capsule and otodystrophies. In Swartz JD, Harnsberger HR, eds. Imaging of the Temporal Bone. 2nd ed. New York: Thieme Medical Publishers, 1992:192-246.

From the Department of Radiology, MacNeal Hospital, Berwyn, Ill.

COPYRIGHT 2000 Medquest Communications, Inc.
COPYRIGHT 2000 Gale Group

Return to Osteogenesis Imperfecta
Home Contact Resources Exchange Links ebay