Caffey's disease revisited: further evidence for autosomal dominant inheritance with incomplete penetrance
RA Saul, WH Lee, RE Stevenson - American Journal of Diseases …, 1982 - jamanetwork.com
• 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 …
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 …