Abstract
Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BARBA W. P., FRERIKS D. J. The familial occurrence of infantile cortical hyperostosis in utero. J Pediatr. 1953 Feb;42(2):141–150. doi: 10.1016/s0022-3476(53)80207-6. [DOI] [PubMed] [Google Scholar]
- Blank E. Recurrent Caffey's cortical hyperostosis and persistent deformity. Pediatrics. 1975 Jun;55(6):856–860. [PubMed] [Google Scholar]
- CAFFEY J. On some late skeletal changes in chronic infantile cortical hyperostosis. Radiology. 1952 Nov;59(5):651–657. doi: 10.1148/59.5.651. [DOI] [PubMed] [Google Scholar]
- EVERSOLE S. L., Jr, HOLMAN G. H., ROBINSON R. A. Hitherto undescribed characteristics of the pathology of infantile cortical hyperostosis (Caffey's disease). Bull Johns Hopkins Hosp. 1957 Aug;101(2):80–99. [PubMed] [Google Scholar]
- GERRARD J. W., HOLMAN G. H., GORMAN A. A., MORROW I. H. Familial infantile cortical hyperostosis. J Pediatr. 1961 Oct;59:543–548. doi: 10.1016/s0022-3476(61)80238-2. [DOI] [PubMed] [Google Scholar]
- Harris V. J., Ramilo J. Caffey's disease: a case originating in the first metatarsal and review of a 12 year experience. AJR Am J Roentgenol. 1978 Feb;130(2):335–337. doi: 10.2214/ajr.130.2.335. [DOI] [PubMed] [Google Scholar]
- Newberg A. H., Tampas J. P. Familial infantile cortical hyperostosis: an update. AJR Am J Roentgenol. 1981 Jul;137(1):93–96. doi: 10.2214/ajr.137.1.93. [DOI] [PubMed] [Google Scholar]
- Pajewski M., Vure E. Late manifestations of infantile cortical hyperostosis (Caffey's disease). Br J Radiol. 1967 Feb;40(470):90–95. doi: 10.1259/0007-1285-40-470-90. [DOI] [PubMed] [Google Scholar]
- Saul R. A., Lee W. H., Stevenson R. E. Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child. 1982 Jan;136(1):55–60. [PubMed] [Google Scholar]
- Thornburg L. P. Infantile cortical hyperostosis (Caffey-Silverman syndrome). Animal model: craniomandibular osteopathy in the canine. Am J Pathol. 1979 May;95(2):575–578. [PMC free article] [PubMed] [Google Scholar]
- Ueda K., Saito A., Nakano H., Aoshima M., Yokota M., Muraoka R., Iwaya T. Cortical hyperostosis following long-term administration of prostaglandin E1 in infants with cyanotic congenital heart disease. J Pediatr. 1980 Nov;97(5):834–836. doi: 10.1016/s0022-3476(80)80282-4. [DOI] [PubMed] [Google Scholar]
- VELLER K., LAUR A. Zur Atiologie der infantilen kortikalen Hyperostose (Caffey-Syndrom). Fortschr Geb Rontgenstr. 1953 Oct;79(4):446–452. [PubMed] [Google Scholar]