Presentation
Day 1 hospital born term male baby was brought to neonatal unit for limbs anomalies. Blue sclera and mildly shortened and bowed limbs were found on examination.
Patient Data
Age: Neonate
Gender: Male
From the case:
Osteogenesis imperfecta - neonate
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This supine X-ray shows multiple long bone fractures as well as bowing of the long bones. Note, left radius and ulnar fractures, rib fractures, fracture of both femurs, right tibial fracture and bowing of left tibia and fibula.
Case Discussion
Features are consistent with osteogenesis imperfecta (OI), also known as brittle bone disease. Non-accidental injury was excluded as he was taken to neonatal unit immediately after birth by pediatric team.