A Newborn with Multiple Fractures in Osteogenesis Imperfecta: A Case Report
Serkan Bayram1, Lezgin Mert1, Fikret Berkan Anarat1
1Department of Orthopedic and Traumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Insights
This case report details a newborn diagnosed with osteogenesis imperfecta (OI), a genetic disorder causing fragile bones. Early diagnosis and orthopedic planning are crucial for managing multiple fractures in infants with OI.
Area of Science:
- Pediatric Orthopedics
- Medical Genetics
- Neonatology
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by impaired Type I collagen synthesis, leading to significant bone fragility.
- Neonatal fractures can be an early indicator of underlying genetic conditions like OI.
- Accurate diagnosis is essential for appropriate management and prognosis.
Observation:
- A female newborn presented with multiple fractures, including humerus, bilateral clavicle, and bilateral femur, without apparent trauma.
- The fractures occurred postnatally, despite the infant initially showing no pathological symptoms at two weeks of age.
- Genetic analysis confirmed a diagnosis of osteogenesis imperfecta.
Findings:
- The diagnosed infant with osteogenesis imperfecta experienced multiple fractures, highlighting the severity of bone fragility in this condition.
- The genetic analysis confirmed OI as the cause of the neonatal fractures.
- The patient was monitored for 8 months post-diagnosis without further complications.
Implications:
- This case underscores the importance of recognizing neonatal fractures as potential signs of osteogenesis imperfecta.
- An accurate orthopedic plan is vital for the diagnosis and treatment of infants with OI and multiple fractures.
- Early identification and management can improve outcomes for infants with this rare genetic disorder.
Introduction:
Multiple bone fractures in a newborn can be associated with osteogenesis imperfect (OI). OI is a rare genetic disorder that causes Type I collagen synthesis disturbance results in bone fragility.
Case Report:
We present a female newborn which had numerous fractures of the humerus, bilateral clavicle, and bilateral femur. Her delivery was at 36 weeks gestation by spontaneous vaginal delivery. She had has not any pathological symptom at 2 weeks after birth, the patient had a fracture of the humerus, bilateral clavicle, and femur without any trauma. Genetic analysis of the patient was reported and OI diagnosed. The patient was followed up for 8 months with regularly and without any complication.
Conclusion:
Multiple fractures with OI in an infant after birth may require an accurate orthopedic plan for diagnosing and treatment.
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