Recurrent Severe Infantile Cortical Hyperostosis (Caffey Disease) in Siblings
✍ Scribed by Beth M. Drinkwater; Jude P. Crino; Jose Garcia; James Ogburn; Jacqueline T. Hecht
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 61 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
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.