Retrospective forensic analysis reveals bone fragility in an infant diagnosed with osteogenesis imperfecta, suggesting congenital factors rather than trauma.
Severe bone fragility in infancy poses a major diagnostic challenge in forensic pathology, particularly in distinguishing congenital disorders from metabolic disease or non-accidental injury. This study presents a retrospective forensic-pathological reassessment of an infant individual who died in 1920 and was historically diagnosed with idiopathic osteopsathyrosis (Vrolik disease), now recognized as osteogenesis imperfecta. The reassessment is based on archival clinical records, the original autopsy report, contemporaneous radiographic documentation, and non-destructive examination of the preserved individual housed at the Morgagni Museum of Human Anatomy (Padua, Italy). The study applies modern forensic and paleopathological criteria to reinterpret the distribution and characteristics of skeletal lesions, while accounting for ethical and conservation constraints that preclude destructive analyses. The individual exhibited extreme skeletal fragility with multiple spontaneous fractures affecting long and flat bones, absence of reparative callus formation, and generalized osteoporotic changes. Radiographic and autopsy descriptions are consistent with a severe congenital bone fragility disorder. Differential diagnosis excludes rickets and non-accidental injury. Archival data also suggest maternal tuberculosis during pregnancy, discussed as a possible comorbid condition rather than a causal factor. This case highlights the forensic relevance of historical pathological collections in providing reference material for rare congenital disorders. A retrospective reassessment using modern diagnostic frameworks can contribute to differential diagnosis in infant deaths and underscores the importance of recognizing osteogenesis imperfecta in medico-legal contexts. • Retrospective forensic reassessment of a fatal infant case of osteogenesis imperfecta • Archival records and radiographs support congenital bone fragility, not trauma • Tuberculosis discussed as comorbidity rather than causal factor in disease severity • Non-destructive museum-based approach applied to medico-legal differential diagnosis • Historical pathological collections remain relevant for modern forensic practice
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Magno et al. (2026) studied this question.
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