The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

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 t...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-11, Vol.185 (11), p.3466-3475
Main Authors: Mordenti, Marina, Gnoli, Maria, Boarini, Manila, Trisolino, Giovanni, Evangelista, Andrea, Pedrini, Elena, Corsini, Serena, Tremosini, Morena, Staals, Eric L., Antonioli, Diego, Stilli, Stefano, Donati, Davide M., Sangiorgi, Luca
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Children
Classification
Clinical medicine
Cross-Sectional Studies
Exostoses, Multiple Hereditary - classification
Exostoses, Multiple Hereditary - epidemiology
Exostoses, Multiple Hereditary - genetics
functional limitation
Humans
Life span
multiple osteochondromas
Original
Osteochondroma - classification
Osteochondroma - epidemiology
Osteochondroma - genetics
Patients
Perichondrium
Phenotype
Phenotypes
rare disease
skeletal deformity
skeletal dysplasia
Tumors
Young Adult
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Summary: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 (
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62470