Infantile cortical hyperostosis and COL1A1 mutation in four generations


Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also… (More)
DOI: 10.1007/s00431-011-1463-0


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