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Caffey's disease (infantile cortical hyperostosis)
Genetics:
- autosomal dominant inheritance
- associated with defects in COL1A1
Clinical manifestations:
1) rarely if ever appears after 5 months of age
2) sometimes present at birth
3) infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, & clavicle
4) acute manifestations are inflammatory
- fever & hot, tender swelling of involved bones
- mandible, ribs
5) resolution generally before 2 years of age
Radiology:
1) has been identified by x-ray in the fetus in utero. The
2) despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy
Related
Caffey, John Patrick, M.D.
General
genetic disease of bone/skeletal system
Database Correlations
OMIM 114000
References
OMIM :accession 114000