Osteogenesis imperfecta

Case contributed by Yaïr Glick
Diagnosis certain

Presentation

Premature neonate, one of twins born on 28th week of gestation. Osteogenesis imperfecta presumed from prenatal US scans.

Patient Data

Age: Neonate
Gender: Female
x-ray

Endotracheal tube and umbilical arterial and venous catheters well placed. Patient on ventillator.
Multiple fractures incurred in utero at various stages of healing; many with malunion, angulation and bridging callus: multiple ribs bilaterally, left humerus, radii and ulnae, femora (segmental fractures in both), and fibulae.

x-ray

AP and lateral views of head showing multiple wormian bones.

Case Discussion

Multiple fractures incurred in the womb in different stages of healing. Multiple wormian bones.
Diagnosis: osteogenesis imperfecta (OI), most probably type I.

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