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Prenat Diagn. 1997 Aug;17(8):773-6.

Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings.

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Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas-Houston Medical School, USA.


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.

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