Features of Type 3 Osteogenesis Imperfecta
- Bones fracture easily; fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth
- Short stature
- Spinal curvature
- Sclera have a blue, purple, or gray tint
- Brittle teeth possible
- Loose joints and poor muscle development in arms and legs
- Hearing loss possible
- Respiratory problems possible
- Triangular face
- Bone deformity, often severe
- Barrel-shaped rib cage
- Head is large for body size
- Collagen improperly formed.
Treatment and Prognosis for Type 3 Osteogenesis Imperfecta
Patients with type 3 osteogenesis imperfecta are generally diagnosed at birth due to multiple fractures. Many patients with this type of the disorder use wheelchairs or other mobility aids. Some are independent ambulators within the home. Use of assistive devices to independently perform activities of daily living is common.
Surgery may be required to support and straighten bowed limbs. For a person with type 3 osteogenesis imperfecta, life span may be somewhat reduced. While some individuals are living into their sixties and seventies, there appears to be clusters of mortality due to pulmonary complications in early childhood, teens, and thirties to forties.
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