Fracture Patterns Differ Between Osteogenesis Imperfecta and Routine Pediatric Fractures
Kranti V Peddada1, Brian T Sullivan, Adam Margalit
1Department of Pediatric Orthopaedic Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD.
Insights
Certain fracture patterns in children may indicate osteogenesis imperfecta (OI). Transverse and diaphyseal humerus fractures, along with olecranon fractures, are most indicative of OI, aiding in early diagnosis.
Area of Science:
- Pediatric Orthopedics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder affecting bone fragility.
- Accurate diagnosis of OI, particularly mild Type 1, is crucial for appropriate management.
- Estimating the likelihood of OI in pediatric fractures is clinically significant.
Purpose of the Study:
- To determine the association between specific fracture patterns and the likelihood of osteogenesis imperfecta (OI) in pediatric patients.
- To identify radiographic indicators that can help differentiate OI fractures from typical pediatric fractures.
Main Methods:
- Retrospective review of 29,101 pediatric fracture cases (2003-2015).
- Inclusion criteria excluded fractures from major trauma, and OI cases identified via ICD-9 codes.
- Comparison of fracture characteristics between 52 OI patients and 500 randomly sampled non-OI controls.
Main Results:
- OI patients were younger at fracture (mean 5.5 years) than non-OI patients (mean 9.0 years).
- OI patients showed higher rates of oblique, transverse, diaphyseal, and bilateral long-bone fractures.
- Non-OI patients had more buckle, metaphyseal, and physeal fractures. Transverse humerus, olecranon, and diaphyseal humerus fractures had high likelihood ratios for OI.
Conclusions:
- Specific fracture patterns, including transverse and diaphyseal humerus and olecranon fractures, are strongly associated with OI.
- Conversely, physeal and supracondylar humerus fractures are less indicative of OI.
- Radiographic fracture analysis is a valuable tool for assessing the probability of OI in pediatric cases.
Background:
It is important to estimate the likelihood that a pediatric fracture is caused by osteogenesis imperfecta (OI), especially the least severe type of OI (type 1).
Methods:
We reviewed records of 29,101 pediatric patients with fractures from 2003 through 2015. We included patients with closed fractures not resulting from motor vehicle accidents, gunshot wounds, nonaccidental trauma, or bone lesions. Patients with OI of any type were identified through International Classification of Diseases-9 code. We randomly sampled 500 pediatric patients in whom OI was not diagnosed to obtain a control (non-OI) group. We reviewed age at time of fracture, sex, fracture type, laterality, and bone and bone region fractured. Bisphosphonate use and OI type were documented for OI patients. Subanalysis of patients with type-1 OI was performed. The Fisher exact and χ tests were used to compare fracture rates between groups. P<0.05 was considered significant. Positive likelihood ratios for OI were calculated by fracture pattern.
Results:
The non-OI group consisted of 500 patients with 652 fractures. The OI group consisted of 52 patients with 209 fractures. Non-OI patients were older at the time of fracture (mean, 9.0±5.0 y) than OI patients (mean, 5.5±4.4 y) (P<0.001). OI patients had more oblique, transverse, diaphyseal, and bilateral long-bone fractures than non-OI patients (all P<0.001). Non-OI patients had more buckle (P=0.013), metaphyseal (P<0.001), and physeal (P<0.001) fractures than OI patients. For patients with type-1 OI and long-bone fractures (n=18), rates of transverse and buckle fractures were similar compared with controls. Transverse humerus (15.2), olecranon (13.8), and diaphyseal humerus (13.0) fractures had the highest positive likelihood ratios for OI, and physeal (0.09) and supracondylar humerus (0.1) fractures had the lowest.
Conclusions:
Transverse and diaphyseal humerus and olecranon fractures were most likely to indicate OI. Physeal and supracondylar humerus fractures were least likely to indicate OI. Radiographic fracture pattern is useful for estimating likelihood of OI.
Level Of Evidence:
Level III.
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