Osteogenesis Imperfecta
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Basics
Description
- Inherited abnormality of procollagen amino acid sequence
- “Brittle bone disease”
- Bone hypomineralization and incomplete ossification result in brittle bones
- Incidence is 1/20,000 live births
- Abnormal collagen affects all connective tissue to varying degrees
- Time course is variable:
- Most cases involve fractures during childhood followed by quiescence during adolescence and early adulthood
Etiology
- Procollagen defects result in abnormalities of bone and connective tissue matrix
- Defects in different sites on procollagen protein chain result in more severe forms
- Defects are inherited, either autosomal recessive (generally milder) or autosomal dominant (more severe)
- Lethal cases involve sporadic or new mutations
- Ehlers–Danlos syndrome involves mutations of the same procollagen protein in different locations
Pediatric Considerations
- Most cases involve pathologic fractures during childhood
- Multiple fractures often initiate evaluation for nonaccidental trauma, but the possibility of pathologic fractures also should be considered
-- To view the remaining sections of this topic, please log in or purchase a subscription --
Basics
Description
- Inherited abnormality of procollagen amino acid sequence
- “Brittle bone disease”
- Bone hypomineralization and incomplete ossification result in brittle bones
- Incidence is 1/20,000 live births
- Abnormal collagen affects all connective tissue to varying degrees
- Time course is variable:
- Most cases involve fractures during childhood followed by quiescence during adolescence and early adulthood
Etiology
- Procollagen defects result in abnormalities of bone and connective tissue matrix
- Defects in different sites on procollagen protein chain result in more severe forms
- Defects are inherited, either autosomal recessive (generally milder) or autosomal dominant (more severe)
- Lethal cases involve sporadic or new mutations
- Ehlers–Danlos syndrome involves mutations of the same procollagen protein in different locations
Pediatric Considerations
- Most cases involve pathologic fractures during childhood
- Multiple fractures often initiate evaluation for nonaccidental trauma, but the possibility of pathologic fractures also should be considered
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