Osteogenesis Imperfecta Clinical Symptoms Registry for 628 Italian Patients

Italian patients with Osteogenesis Imperfecta (OI) who received care at the IRCCS Istituto Ortopedico Rizzoli from 2005 to 2024 were enrolled in this registry. The study includes 628 patients, analyzing clinical manifestations like height, fracture rates, and skeletal deformities by disease severity and age. The data was authored by Marina Mordenti and last updated in May 2026.

Use Cases

• Analyze the correlation between OI type and patient height based on disease severity descriptions
• Model annualized fracture rates based on patient age and OI type groups mentioned
• Study the prevalence of extraskeletal manifestations like hearing loss and dental abnormalities across the cohort

Strengths

• Includes 628 patient records, a substantial cohort for a rare disease study
• Provides specific annualized fracture rates (e.g., 288.31 per 1,000 person years) for younger patients
• Covers a long temporal range from 2005 to 2024, allowing for longitudinal analysis

Limitations

• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment
• A significant portion (36.8%) of patients have an unknown OI type

Provenance

Source

Registry of Osteogenesis Imperfecta database at IRCCS Istituto Ortopedico Rizzoli

Collection Method

Registry-based study of patients receiving care from 2005 to 2024

Time Range

2005 to 2024

Freshness

Last updated 2026-05-18 10:31:04; freshness should be verified

Geography

Italy