A Newborn with Multiple Fractures in Osteogenesis Imperfecta: A Case Report

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.