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 gene (COL1A1) responsible for type-I collagen synthesis is believed to be responsible.
Histopathologically it is similar to the infantile cortical hyperostosis.
The diseased can be diagnosed by antenatal ultrasonography and the following features may be observed:
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 above mentioned entities is absence of fractures.
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