1. The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice
- Author
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Manila Boarini, Andrea Evangelista, Serena Corsini, Davide Maria Donati, Luca Sangiorgi, Morena Tremosini, Maria Gnoli, Stefano Stilli, Eric L. Staals, Diego Antonioli, Elena Pedrini, Giovanni Trisolino, Marina Mordenti, Mordenti M., Gnoli M., Boarini M., Trisolino G., Evangelista A., Pedrini E., Corsini S., Tremosini M., Staals E.L., Antonioli D., Stilli S., Donati D.M., and Sangiorgi L.
- Subjects
Adult ,Pediatrics ,medicine.medical_specialty ,multiple osteochondroma ,Osteochondroma ,Multiple osteochondroma ,Adolescent ,rare disease ,Disease ,skeletal dysplasia ,Young Adult ,Genetics ,Deformity ,Medicine ,Humans ,functional limitation ,Child ,Genetics (clinical) ,Entire population ,skeletal deformity ,business.industry ,Genetic heterogeneity ,Phenotype ,Clinical Practice ,Cross-Sectional Studies ,classification ,Child, Preschool ,medicine.symptom ,business ,Exostoses, Multiple Hereditary ,Rare disease - Abstract
Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations. Our study aims to analyze the data captured by the Registry of Multiple Osteochondromas, to refine Istituto Ortopedico Rizzoli (IOR) Classification, providing a representative picture of the phenotypic manifestations throughout the lifespan. We conducted a single-institution cross-sectional study. Patients were categorized according to IOR Classification, which identifies three patients' classes on the presence/absence of deformities and/or limitations. The present dataset was compared with our previously published data, to refine the classification. Nine hundred sixty-eight patients were included: 243 children (
- Published
- 2021