Congenital Cortical Hyperostosis (Subscribe)

CAFFEY DISEASE Alternative titles; symbols INFANTILE (CONGENITAL)CORTICAL HYPEROSTOSIS PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED Caffey disease is caused by mutation in the alpha-1 collagen type I gene (COL1A1; 120150). CLINICAL FEATURES Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age; it is sometimes present at birth and has been ...

J Clin Invest. 2005 May 2; 115(5): 1142¨C1144Caffey disease: an unlikely collagenopathy Francis H. Glorieux Departments of Surgery, Pediatrics, and Human Genetics, McGill University, and Genetics Unit, Shriners Hospital for Children, Montr¨¦al, Quebec, Canada. Infantile cortical hyperostosis (also known as Caffey disease) is characterized by hyperirritability, acute inflammation of soft tissues, and profound alterations of the shape and structure of the underlying bones, particularly the ...

Also known as: 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 Description: 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 ...

Caffey's disease or Infantile cortical hyperostosis or Roske-De Toni-Caffey-Smyth syndrome or Caffey De Toni Silvermann syndrome. "A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)" Features Miscellaneous syndromes Hyperostosis Symptoms and Signs Genu varum X-ray abnormalities Periosteal reaction

Infantile cortical hyperostosis D Suri, D Dayal and M Singh Advanced Pediatrics Center, -160012, India; Keywords: Caffeys disease A 14 week old male infant presented with multiple tender bony swellings involving the legs, forearm, and lower jaw since 1 month of age (fig 1). No history of fever, trauma, or child abuse was forthcoming. He was irritable and had difficulty in feeding since the appearance of the jaw swelling. Bowing of the lower limbs with pseudoparalysis was observed. There ...

Indian Pediatrics 2005; 42:64-66 Abstract: Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. We report a case of Caffey disease highlighting its presentation as pyrexia of unknown origin, appearance on radionuclide bone scintigraphy and our unsatisfactory experience of treating it with Ibuprofen, a prostaglandin inhibitor.

URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&term=%22Hyperostosis%2C+Cortical%2C+Congenital%22%5BMAJR%5D