title: Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings.
abstract: Infantile cortical hyperostosis (ICH), Caffey disease, is a multifocal, inflammatory skeletal process with classic onset before the fifth month of life and resolution by the age of 3 years. A severe phenotype with early prenatal onset has also been described. Inheritance is generally accepted a autosomal dominant with variable expression and penetrance. 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 for this form of inheritance.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas-Houston Medical School, USA. wilkesb@musc.edu
authors.forename: B M
authors.initials: BM
authors.lastname: Drinkwater
authors.forename: J P
authors.initials: JP
authors.lastname: Crino
authors.forename: J
authors.initials: J
authors.lastname: Garcia
authors.forename: J
authors.initials: J
authors.lastname: Ogburn
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
mesh_terms: D000328:Adult; D000649:Amniocentesis; D005260:Female; D005865:Gestational Age; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000175:diagnosis / Q000235:genetics*; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal