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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice
Marina Mordenti1, Maria Gnoli1, Manila Boarini1
1Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
American Journal of Medical Genetics. Part A
|September 3, 2021
Summary
Multiple osteochondromas (MO) is a rare bone tumor disorder. Refining the IOR classification with registry data provides a better overview of MO
Area of Science:
- Orthopedics
- Genetics
- Rare Diseases
Background:
- Multiple osteochondromas (MO) is a rare genetic disorder causing benign bone tumors.
- Tumors grow during childhood, often leading to deformities and functional limitations.
Purpose of the Study:
- To refine the Istituto Ortopedico Rizzoli (IOR) Classification for MO.
- To analyze phenotypic manifestations across the lifespan using registry data.
Main Methods:
- A single-institution cross-sectional study of 968 patients with MO.
- Patients categorized by IOR Classification (deformities/limitations).
- Comparison with previous data to refine classification criteria.
Main Results:
- Half of patients had deformities; one quarter reported limitations.
- Increased pediatric cases and mild/moderate presentations compared to prior study.
- Confirmed significant phenotypic heterogeneity in MO.
Conclusions:
- Refined IOR classification offers a better disease overview across lifespan.
- Early classification aids in monitoring MO progression and guiding interventions.
- Phenotypic heterogeneity underscores the need for individualized patient management.
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