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Temporary brittle bone disease: a true entity?
1Department of Pediatrics, Wright State University School of Medicine and the Children's Medical Center, Dayton, OH 45404, USA.
Insights
Temporary brittle bone disease, characterized by fractures in infants, is linked to reduced fetal movement and low bone density. This study supports its existence as a distinct medical condition.
Area of Science:
- Pediatrics
- Orthopedics
- Medical Genetics
Background:
- Temporary brittle bone disease (TBBD) is a recently identified condition causing fractures in infants.
- It is often misdiagnosed as child abuse due to unexplained fractures.
- Establishing TBBD as a distinct entity is crucial for accurate diagnosis and treatment.
Purpose of the Study:
- To investigate the association between TBBD and factors like fetal movement and bone density.
- To provide evidence supporting the existence of TBBD as a real medical condition.
- To aid clinicians in diagnosing TBBD.
Main Methods:
- Review of 26 infant cases meeting TBBD criteria.
- Bone density measurements (CT or radiography) in nine infants.
- Analysis of historical data on fetal movement and intrauterine confinement.
Main Results:
- A strong correlation was found between TBBD and decreased fetal movement, often due to intrauterine confinement.
- Eight out of nine infants studied exhibited low bone density measurements.
- These findings align with the mechanostat-mechanical load theory of bone formation.
Conclusions:
- Temporary brittle bone disease is a genuine medical condition.
- Decreased fetal movement and intrauterine confinement are significant associated factors.
- Bone density measurements and historical data are valuable diagnostic tools for TBBD.
Abstract:
Temporary brittle bone disease is a recently described phenotype of increased fracture susceptibility in the first year of life in which there are multiple unexplained fractures without evidence of other internal or external injury. Most child abuse experts do not accept the existence of temporary brittle bone disease and presume these cases are child abuse. The author reviewed 26 cases of infants with multiple unexplained fractures that fit the criteria of temporary brittle bone disease and studied nine of them with either computed tomography or radiographic bone density measurements. The results show a striking association between temporary brittle bone disease and decreased fetal movement, usually from intrauterine confinement, and low bone density measurements in eight of the nine infants. The association with decreased fetal movement and intrauterine confinement is in keeping with the mechanostat-mechanical load theory of bone formation. The author feels that temporary brittle bone disease is a real entity and that historical information related to decreased fetal movement or intrauterine confinement and the use of bone density measurements can be helpful in making this diagnosis.