• A family with six members affected with Caffey's disease (infantile cortical hyperostosis) demonstrates marked variability in expression and incomplete penetrance for this autosomal dominant condition. Twenty-five additional instances of familial Caffey's disease (with a total of 104 persons affected) are reviewed. From the 1940s to 1960s, sporadic cases of Caffey's disease occurred more commonly than did familial cases and probably represented environmentally produced phenocopies. Such isolated cases are rarely seen today. Familial Caffey's disease differs in several aspects from the sporadic type, having an earlier onset of disease (24% at birth), less frequent mandibular involvement, and more frequent lower-extremity involvement. Cases of Caffey's disease detected today should have appropriate radiologic testing of other family members to search for evidence of disease. Prompt recognition allows for conservative management of this usually self-limited condition.
(Am J Dis Child 1982;136:56-60)
Saul RA, Lee WH, Stevenson RE. Caffey's Disease RevisitedFurther Evidence for Autosomal Dominant Inheritance With Incomplete Penetrance. Am J Dis Child. 1982;136(1):56–60. doi:10.1001/archpedi.1982.03970370058014