Osteogenesis Imperfecta: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Osteogenesis imperfecta (OI) is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue. Osteogenesis imperfecta has been linked to over 150 genetic mutations that all take affect on the genes COL1A1 and COL1A2, which are the genes that make up type I collagen. The mutation can either cause collagen production that is too low, or cause abnormal polypeptide chains that is unable to properly form type I collagen. There are four primary types of osteogenesis imperfecta that are described by the Sillence Classification of Osteogenesis Imperfecta. | Osteogenesis imperfecta (OI) is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue. Osteogenesis imperfecta has been linked to over 150 genetic mutations that all take affect on the genes COL1A1 and COL1A2, which are the genes that make up type I collagen. The mutation can either cause collagen production that is too low, or cause abnormal polypeptide chains that is unable to properly form type I collagen. There are four primary types of osteogenesis imperfecta that are described by the Sillence Classification of Osteogenesis Imperfecta.<ref name="Goodman">Goodman CC, Fuller KS. Pathology: Implications for the Physical Therapist. 3rd edition. St. Louis, Missouri: Saunders Elsevier, 2009.</ref> | ||
"Sillence Classification of Osteogenesis Imperfecta | "Sillence Classification of Osteogenesis Imperfecta | ||
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*Barrel-shaped rib cage | *Barrel-shaped rib cage | ||
*Bones fracture easily before puberty; some children improve at puberty | *Bones fracture easily before puberty; some children improve at puberty | ||
*Light or normal sclerae; may or may not have moderately short stature and joint hyperextensibility" | *Light or normal sclerae; may or may not have moderately short stature and joint hyperextensibility"<ref name="Goodman" /> | ||
<br> | <br> |
Revision as of 04:31, 6 March 2010
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Definition/Description[edit | edit source]
Osteogenesis imperfecta (OI) is a rare genetic disorder of the synthesis of collagen that affects bone and connective tissue. Osteogenesis imperfecta has been linked to over 150 genetic mutations that all take affect on the genes COL1A1 and COL1A2, which are the genes that make up type I collagen. The mutation can either cause collagen production that is too low, or cause abnormal polypeptide chains that is unable to properly form type I collagen. There are four primary types of osteogenesis imperfecta that are described by the Sillence Classification of Osteogenesis Imperfecta.[1]
"Sillence Classification of Osteogenesis Imperfecta
Type I (most common form)
- Mildest form of OI
- Mild to moderate fragility without deformity
- Most fractures occur before puberty
- Associated with blue sclerae, triangular face, hearing loss (beginning in twenties or thirties), easy bruising
Type II
- Most severe form of OI (perinatla lethal)
- Stillbirth or death during infancy or early childhood
- Extreme fragility of connective tissue
- Multiple in utero fractures
- Usually intrauterine growth retardation
- Severe bone deformity
- Soft, large cranium
- Micromelia: long bones crumpled and bowed; ribs beaded
Type III
- Moderately Severe
- Progressive deformities
- Scoliosis
- Triangular face, large skull
- Severe osteoporosis
- Severe fragility of bones; usually in utero fractures
- Factures heal with deformity and bowing
- Associated with tinted sclerae (blue, purple, or grey)
- Extremely short stature
- Usually wheelchair bound by teenage years
Type IV
- Variable but usually milder course; normal or near-normal lifespan
- Mild to moderate skeletal fragility and osteoporosis (more severe than type I)
- Associated with bowing of long bones
- Barrel-shaped rib cage
- Bones fracture easily before puberty; some children improve at puberty
- Light or normal sclerae; may or may not have moderately short stature and joint hyperextensibility"[1]
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