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Misdiagnosed metabolic bone abnormality: a case report.
Mohammed Alsabri1,2,3, Hannah Street4, Aaron Sircy5
1Pediatrics, 1 Brookdale University Hospital and Medical Center, 1Brookdale Plaza, Brooklyn, NY, 11212, USA. alsabri5000@gmail.com.
Journal of Medical Case Reports
|October 19, 2023
Summary
Genetic testing revealed a rare cause of metabolic bone disease in a child initially diagnosed with hypophosphatemic rickets. This highlights the importance of advanced diagnostics for complex cases.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Skeletal Dysplasias
Background:
- Metabolic bone diseases contribute to significant patient morbidity and mortality.
- Accurate diagnosis is crucial, as misdiagnosis can worsen outcomes.
- Genetic testing offers a powerful tool for analyzing diverse bone disease pathologies.
Keywords:
Amelogenesis imperfectaEnamel hypoplasiaMetabolic bone diseaseRare genetic diseaseRenal enamel syndromeMore Related Videos
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