Article
Prenatal cortical hyperostosis with COL1A1 gene mutation.
American journal of medical genetics. Part A - 15 Jul 2008
Kamoun-Goldrat Agnès, Martinovic Jelena, Saada Julien, Sonigo-Cohen Pascale, Razavi Ferechte, Munnich Arnold, Le Merrer Martine
Abstract excerpt
Infantile cortical hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis...
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