Osteogenesis Imperfecta is a topic covered in the 5-Minute Emergency Consult.
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Basics
Description
Description
- Inherited abnormality ofprocollagen amino acid sequence
- Bone hypomineralization and incomplete ossification result in brittle bones.
- 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
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 abuse, but the possibility of pathologic fractures also should be considered.
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Citation
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TY - ELEC
T1 - Osteogenesis Imperfecta
ID - 307141
Y1 - 2016
PB - 5-Minute Emergency Consult
UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307141/all/Osteogenesis_Imperfecta
ER -