Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]

Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. This study seeks to present the characteristic patterns of prenatal-onset cortical hyperostosis (PCH) with regard to the radiographic features, and tries to ascertain whether PCH is a separate entity from infantile cortical hyperostosis (ICH), known as classic Caffey Disease.

This retrospective study identified cases with PCH based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International Skeletal Dysplasia Registry between 1987 and 2009. Outcomes and clinical information were also identified from medical records.

Based upon radiographic results, we found 20 individuals with PCH, of whom 10 neonatally survived, and 10 died. Hyperostosis of the mandible was found in 18/20, and of the skull base in 16/20 cases. Hyperostosis of the ribs was found in 17/20 cases, of the scapulae in 14/20, and of the clavicles in 4/20. Hyperostosis of the ileum was found in 11/20 cases, and of the long bones in all 20/20 cases, of which three cases had fibula sparing. No hyperostosis of the hands, feet, and spine was found.

Our results suggest that, based upon clinical features and radiographic expression, ICH and PCH represent two separate entities, and that ICH should continue to be referred to as Caffey Disease and that PCH should be called Caffey Dysplasia. The findings of symmetrical hyperostosis of the mandible, ribs, scapulae, ilea, and long bones in any combination should suggest the diagnosis of PCH.