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May 22, 2026Frontiers in EndocrinologyOpen Access

Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients

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Authors

MMMarina MordentiIstituto Ortopedico RizzoliJCJames ClancyCTI BioPharma (Italy)MDMatthew DyerCTI BioPharma (Italy)

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Overview

Registry-based study provides insights on clinical manifestations of osteogenesis imperfecta in Italian patients, suggesting the need for tailored care.

Key Points

  • This study aims to overview clinical manifestations of osteogenesis imperfecta by severity and age in a large Italian cohort.
  • Enrolled 628 patients with osteogenesis imperfecta receiving care at IRCCS Istituto Ortopedico Rizzoli from 2005 to 2024.
  • Analyzed clinical symptoms and variations based on disease severity and age.
  • Included data on types of osteogenesis imperfecta, height, fractures, skeletal, and extraskeletal deformities.
  • 56.2% of patients had Type I OI; fracture rates were highest in younger patients at 288.31 per 1,000 person years.
  • Skeletal deformities were reported across all OI types, with trunk deformities most common.
  • 10–30% suffered from functional limitations, with extraskeletal manifestations like skin abnormalities and hearing loss being prevalent.

Cite This Study

Mordenti et al. (2026) studied this question.

synapsesocial.com/papers/6a0ff1dbd674f7c03778b04ehttps://doi.org/10.3389/fendo.2026.1823717
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The natural history of osteogenesis imperfecta: a systematic review2026
  2. 2Diagnosis and Management of Type 4-IV Osteogenesis Imperfecta from Intrauterine Life to School Age: A Clinical Case Study2025
  3. 3Epidemiological profile of patients with osteogenesis imperfecta assisted at a reference children's hospital in Brazil2024
  4. 4OSTEOGENESIS IMPERFECT: A CASE REPORT2024
  5. 5A Single-Center Retrospective Cohort Study of Genotype–Phenotype Correlation of Osteogenesis Imperfecta in UAE2024 · 1 citations