Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings

Beth M. Drinkwater, Jude P. Crino, Jose Garcia, James Ogburn, Jacqueline T. Hecht

Research output: Contribution to journalArticlepeer-review

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 as 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.

Original languageEnglish (US)
Pages (from-to)773-776
Number of pages4
JournalPrenatal Diagnosis
Volume17
Issue number8
DOIs
StatePublished - Aug 1997

Keywords

  • Caffey disease
  • Inheritance
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings'. Together they form a unique fingerprint.

Cite this