Prenatal onset infantile cortical hyperostosis

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 disease can be diagnosed by antenatal ultrasonography 4 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 the above-mentioned entities is the absence of fractures.

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Article information

rID: 31096
Tag: pm
Synonyms or Alternate Spellings:
  • Antenatal onset infantile cortical hyperostosis

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