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Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings
B M Drinkwater1, J P Crino, J Garcia
1Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas-Houston Medical School, USA. wilkesb@musc.edu
Insights
Infantile cortical hyperostosis (Caffey disease) typically presents in infancy. This study provides evidence for a severe autosomal recessive form of Caffey disease, distinct from the common autosomal dominant inheritance pattern.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Infantile cortical hyperostosis (ICH), also known as Caffey disease, is an inflammatory skeletal condition.
- It typically manifests before five months of age and resolves by three years, though severe prenatal onset exists.
- Autosomal dominant inheritance with variable penetrance is widely accepted, but familial cases without a clear history suggest other forms.
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.