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Universitas Medica

versão impressa ISSN 0041-9095versão On-line ISSN 2011-0839

Resumo

GUAPI NAUNAY, Víctor Hugo  e  LEONE, Paola E.. Caffey Disease in a Family and Disorders Related to Collagen Type 1. Univ. Med. [online]. 2019, vol.60, n.2, pp.67-76. ISSN 0041-9095.  https://doi.org/10.11144/javeriana.umed60-2.caff.

Introduction:

Also called infantile cortical hyperostosis, characterized by the presence of an episode in childhood with subperiosteal neoformation in the diaphysis of long bones, jaw and clavicles.

Case description:

A newborn was evaluated with clinical-radiological findings that included anterior angular deformity of the left forearm and lower limbs. The simple bone scan birth certified cortical hyperostosis with anterior curvature of the left radius, associated with important cortical thickening in the diaphysis of tibias. The control radiograph at three months of age showed a decrease in cortical hyperostosis. The second case is a seven-year-old patient who has presented two exacerbations of cortical hyperostosis. Upon physical examination, he presented hyperextensibility of auricular pavilions, hypermobility of small joints and diffuse multiple hemosiderin spots located on the legs. The third case corresponded to an infant younger than one month three days of life, with radiography that showed the cortical hyperostosis of tibias.

Conclusion:

We conclude that the family with diaphyseal neoformation constitute cases of interest because it is an infrequent diagnosis in the pediatric age and whose clinical suspicion can be generated from a good clinical examination and study of the index case, supplemented with the interpretation of the genealogy associated with the molecular study that corroborates it.

Palavras-chave : infantile cortical hyperostosis; cortical bone; collagen type I; mutation.

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