Citation, DOI, disclosures and article data
Citation:
Mudgal P, Knipe H, Glick Y, et al. Prenatal onset infantile cortical hyperostosis. Reference article, Radiopaedia.org (Accessed on 10 Jun 2024) https://doi.org/10.53347/rID-31096
Prenatal onset infantile cortical hyperostosis is a rare variant of infantile cortical hyperostosis, however, it is a more severe and lethal form and newborns die early postnatally.
Both sporadic and autosomal recessive inheritance have been suggested. A missense mutation in the gene (COL1A1) responsible for type-I collagen synthesis is believed to be responsible.
Histopathologically, it is similar to the infantile cortical hyperostosis.
Ultrasound
The disease can be diagnosed by antenatal ultrasonography 4 and the following features may be observed:
Plain radiograph
Postmortem plain x-ray may show cortical hyperostosis of long bones, ribs, and mandible.
Antenatal USG imaging differentials include:
The typical differentiating feature of prenatal onset hyperostosis from the above-mentioned entities is the absence of fractures.
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1. Dahlstrom JE, Arbuckle SM, Kozlowski K et-al. Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology. 2002;33 (4): 521-5. Pubmed citation
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2. Schweiger S, Chaoui R, Tennstedt C et-al. Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. Am. J. Med. Genet. A. 2003;120A (4): 547-52. doi:10.1002/ajmg.a.20062 - Pubmed citation
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3. Kamoun-Goldrat A, Martinovic J, Saada J et-al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am. J. Med. Genet. A. 2008;146A (14): 1820-4. doi:10.1002/ajmg.a.32351 - Pubmed citation
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4. Burton KR, Glanc P. Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease). Ultrasound quarterly. 32 (4): 338-341. doi:10.1097/RUQ.0000000000000234 - Pubmed
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5. Nemec SF, Rimoin DL, Lachman RS. Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. European journal of radiology. 81 (4): e565-72. doi:10.1016/j.ejrad.2011.06.049 - Pubmed
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