ArticleJBMR plus2026
Prolyl 3-hydroxylase 1 (P3H1) deficient osteogenesis imperfecta with vascular malformations: a rare disorder with atypical features.
Article in JBMR plus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Osteogenesis imperfecta (OI) is a genetic disorder characterized by skeletal fragility with increased susceptibility to fractures, alongside various extra-skeletal manifestations. It has a wide spectrum of clinical presentations and varying degree of severity. Over the years, the classification of OI has expanded, and new pathogenic variants are being identified in genes involved in the regulation of collagen synthesis. We describe a case of a 4-yr-old boy who first presented with right eye swelling, redness, proptosis, and limitation in extraocular movements. Further investigation revealed presence of large left sphenoid vascular malformation (VM). He was treated with repeated embolization and oral propranolol. A year later, he suffered a pathological fracture of the left proximal femur. This was followed by recurrent fractures over a period of 5 yr. Radiographs and MRI showed multiple osteolytic lesions in his skull and extremities, and he had low BMD. Genetic testing identified biallelic variants in the
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