- Caffey's syndrome I
- Caffey-Smyth syndrome
- Smyth-Caffey syndrome
- De Toni-Caffey syndrome
- De Toni-Caffey-Silverman syndrome
- De Toni-Silverman-Caffey syndrome
- Roske-De Toni-Caffey syndrome
- Roske-De Toni-Caffey-Silverman syndrome
- Roske-De Toni-Caffey-Smyth syndrome
Probably familial disease of infants affecting skeleton and adjacent tissues. It is characterized by fever, irritability, swelling of soft tissues, and cortical bone thickening. The mandible is usually involved, less commonly the clavicle, tibia, ulna, femur ribs, humerus, and fibula with periodic proliferation in the first 3 months of life. Jaw and forearm are the most common sites of thickening. Tenderness and movement limitation of affected parts. Puffy jaws and cheeks give the face a characteristic appearance. Also ocular signs. Although cases have been identified in utero, the syndrome may usually be recognized during the first six months of life. Spontaneous healing within few weeks. Etiology unknown. Inheritance is autosomal domninant.
First described by Georg Roske in 1930. Caffey recognized this condition in 1939 and with Silverman described it as an entity in 1945. It must be emphasised that Caffey’s co-author was William Aaron Silverman and not Fred Silverman, the distinguisged bone radiologist.
In 1975 Caffey reviewed the disorder employing his original designation «infantile cortical hyperostosis».
- G. Roske:
Eine eigenartige Knochenerkrankung im Säuglingsalter.
Monatsschrift für Kinderheilkunde, Berlin, 1930, 47: 385-393.
- J. Caffey, W. A. Silverman:
Infantile cortical hyperostoses. Preliminary report on a new syndrome.
American Journal of Roentgenology, Leesburg, Virginia, 1945, 54: 1-16.
- J. Caffey:
Infantile cortical hyperostosis.
Journal of Pediatrics, St. Louis, 1946, 29: 541.
- F. S. Smyth, W. Silverman:
Periosteal reaction, fever, and irritability in young infants. A new syndrome?
American Journal of Diseases of Children, Chicago, 1946, 71: 333-350.
- J. Caffey:
Infantile cortical hyperostoses: A review of the clinical and radiographic features.
Proceedings of the Royal Society of Medicine, London, 1975, 50: 347.
- C. Faure, et al:
Predominant or exclusive orbital and facial involvement in infantile cortical hyperostosis, De Toni-Caffey disease.
Pediatric Radiology, Berlin, 1977, 6: 103-106.