Familial infantile cortical hyperostosis: an update

Abstract

In 1961, the senior author reported 11 members of one family with infantile cortical hyperostosis. Since then, 10 new cases have occurred in this family resulting in a total of 21 cases. The incidence of infantile cortical hyperostosis in this family is as common today as it was two generations ago, and there has been no diminution in the incidence. Several patients with minimal or no clinical symptoms would have gone unrecognized had it not been for the family history of the disorder. On the basis of this study, infantile cortical hyperostosis is inherited as an autosomal dominant with variable penetrance.