Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood
Insights
Infant fractures may signal rare genetic disorders causing bone fragility, distinct from Osteogenesis Imperfecta. Evaluation includes clinical, radiographic, and molecular profiles for accurate diagnosis.
Area of Science:
- Pediatric Orthopedics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Infant fractures necessitate evaluation for trauma and numerous genetic disorders causing bone fragility.
- Over 100 genetic conditions, including skeletal dysplasias and metabolic disorders, are linked to increased fracture risk.
- While rare, these disorders often present with unique clinical and radiographic features aiding diagnosis.
Purpose of the Study:
- To present the clinical, radiographic, and molecular profiles of common heritable disorders associated with bone fragility, excluding Osteogenesis Imperfecta.
- To guide clinicians in diagnosing rare genetic causes of fractures in young children.
Main Methods:
- Review of clinical, radiographic, and molecular data for heritable bone fragility disorders.
- Focus on conditions other than Osteogenesis Imperfecta.
- Consideration of non-heritable influences in the diagnostic process.
Main Results:
- Detailed profiles of common heritable disorders predisposing to fractures are presented.
- Gene sequencing and specialized panels are available but helpful in a minority of cases.
- Distinct clinical and radiographic findings are key diagnostic indicators.
Conclusions:
- Accurate diagnosis of infant fractures requires considering a wide spectrum of genetic disorders causing bone fragility.
- Clinicians must differentiate these from Osteogenesis Imperfecta and consider non-heritable factors.
- Understanding the profiles of these rare disorders is crucial for effective patient management.
Abstract:
Fractures in infancy or early childhood require prompt evaluation with consideration of accidental or non-accidental trauma as well as a large number of genetic disorders that predispose to fractures. Bone fragility has been reported in more than 100 genetic disorders, including skeletal dysplasias, inborn errors of metabolism and congenital insensitivity to pain. Most of these disorders are rare but often have distinctive clinical or radiographic findings to assist in the diagnosis. Gene sequencing is available, albeit connective tissue and skeletal dysplasia panels and biochemical studies are only helpful in a minority of cases. This article presents the clinical, radiographic, and molecular profiles of the most common heritable disorders other than osteogenesis imperfecta with increased bone fragility. In addition, the clinicians must consider non-heritable influences such as extreme prematurity, prenatal viral infection and neoplasia in the diagnostic process.
Related Concept Videos
01:27Fractures: Bone Repair
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:29Bone Formation by Intramembranous Ossification
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
01:24Bone Formation by Endochondral Ossification
01:24Flail Chest-I
Flail chest is a severe and potentially life-threatening condition characterized by the fracture of three or more adjacent ribs in multiple places. It is most commonly caused by direct impacts and trauma, such as motor vehicle accidents or injuries from a steering wheel impact. It can also occur due to falls in elderly individuals with osteoporosis, or assaults involving sharp objects.
Pathophysiology
The pathophysiology of flail chest is complex, involving fractures of...