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Article

A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in P3H1 gene.

BMJ case reports - 24 Oct 2024

Khadse Savita, Shankaramurthy Prakruthi, Shah Nikhil, Ghildiyal Radha

Abstract excerpt

A female toddler presented with short stature and hypermobility of limbs. She had sustained five long bone fractures following minor trauma since early infancy. Skeletal survey was consistent with osteogenesis imperfecta. This was genetically proven on clinical exome analysis, which revealed a pathogenic homozygous autosomal recessive P3H1 nonsense mutation. She has been started on cyclical pamidronate infusion...

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PMID: 39455078
DOI: 10.1136/bcr-2024-260133

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