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.
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Pathology
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.
Radiographic features
Ultrasound
The disease can be diagnosed by antenatal ultrasonography 4 and the following features may be observed:
- short, angulated bones
- irregular diaphyses
- hydrops fetalis
- pulmonary hypoplasia
- polyhydramnios
Plain radiograph
Postmortem plain x-ray may show cortical hyperostosis of long bones, ribs, and mandible.
Differential diagnosis
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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