Emergency Central is a collection of disease, drug, and test information including 5-Minute Emergency Medicine Consult, Davis’s Drug, McGraw-Hill Medical’s Diagnosaurus®, Pocket Guide to Diagnostic Tests, and MEDLINE Journals created for emergency medicine professionals. Explore these free sample topics:
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- 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.
- 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.
- Most cases involve pathologic fractures during childhood.
- Multiple fractures often initiate evaluation for abuse, but the possibility of pathologic fractures also should be considered.