RECURRENT SEVERE INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY-DISEASE) IN SIBLINGS

Infantile cortical hyperostosis (ICH), Caffey disease, is a multifocal , inflammatory skeletal process with classic onset before the fifth mo nth of life and resolution by the age of 3 years. A severe phenotype w ith early prenatal onset has also been described. Inheritance is gener ally accepted as autosomal dominant with variable expression and penet rance. However, occurrence in siblings with no family history has been reported, raising the possibility of heterogeneity and the existence of a severe autosomal recessive form. We describe a third family with prenatally diagnosed ICH in two siblings, providing further evidence f or this form of inheritance. (C) 1997 by John Wiley & Sons, Ltd.