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

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 therapy. We have demonstrated an extremely rare case of non-lethal osteogenesis imperfecta VIII due to P3H1 mutation.