Caffey's disease (infantile cortical hyperostosis)
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Genetics
- autosomal dominant inheritance
- associated with defects in COL1A1
Clinical manifestations
- rarely if ever appears after 5 months of age
- sometimes present at birth
- infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, & clavicle
- acute manifestations are inflammatory
- resolution generally before 2 years of age
Radiology
- has been identified by x-ray in the fetus in utero. The
- despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy