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Protrusio Acetabuli in Osteogenesis Imperfecta: A Two-Center Study on Incidence and Associated Factors
Maria Gjættermann1,2, Andrea Laufer3, Jannie Dahl Hald4,5
1Department of Children's Orthopaedics, Aarhus University Hospital, Aarhus, Denmark.
Insights
Protrusio acetabuli (PA) is common in Osteogenesis Imperfecta (OI), affecting nearly half of patients. Factors like female sex, higher BMI, and scoliosis are linked to its presence in OI patients.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Osteogenesis Imperfecta (OI) is a rare genetic disorder causing bone fragility and deformity.
- Protrusio acetabuli (PA) is a known radiographic finding in OI, but its incidence and associated factors are not well-defined.
- Limited data exists on PA across diverse OI phenotypes.
Purpose of the Study:
- To determine the incidence and severity of Protrusio Acetabuli (PA) in patients with Osteogenesis Imperfecta (OI).
- To identify demographic and clinical factors associated with PA in OI patients.
- To evaluate PA as a potential manifestation across the spectrum of OI disease.
Main Methods:
- Retrospective analysis of pelvic radiographs and clinical data from 69 OI patients across two centers.
- PA assessment using established radiographic criteria and Sotelo-Garza/Charnley classification.
- Univariable logistic regression to identify factors associated with PA.
Main Results:
- PA was identified in 32 (46.4%) of the 69 OI patients.
- Patients with PA were significantly older than those without.
- Female sex, BMI > 25 kg/m², and scoliosis were significantly associated with PA.
Conclusions:
- Protrusio acetabuli is a frequent radiographic finding in Osteogenesis Imperfecta, occurring across all disease severities.
- PA may be an underrecognized manifestation in the OI population.
- Further prospective studies are needed to confirm findings and understand the clinical relevance of PA in OI.
Abstract:
Osteogenesis imperfecta (OI) is a rare genetic connective tissue disorder characterized by increased fracture risk and bone deformity. Protrusio acetabuli (PA) is a well-recognized radiographic finding in patients with OI, yet data on its incidence, severity, and associated factors across different OI phenotypes remain limited. This retrospective study evaluated pelvic radiographs and clinical data of patients with OI treated in two centers. PA was assessed using established radiographic criteria and graded according to the Sotelo-Garza/Charnley classification. Demographic and clinical variables were analyzed to identify factors associated with PA. Of 69 patients included, PA was found in 32 (46.4%), of whom nine presented with severe, 15 with moderate, and eight with mild PA. Patients with PA were significantly older than those without PA. Univariable logistic regression identified female sex, body mass index > 25 kg/m2, and scoliosis as factors significantly associated with PA. PA is a frequent radiographic finding in OI, affecting patients across all phenotypic severities, including mild disease, and may represent an underrecognized manifestation across the disease spectrum. While several factors were associated with its presence, these findings should be interpreted descriptively. Given the potential for selection bias, the reported prevalence may not be generalizable to the broader OI population. Further prospective studies are required to clarify the clinical relevance and natural history of PA in OI.Level of Evidence IV.
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