Osteogenesis imperfecta

Case contributed by Dr Yair Glick

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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Case information

rID: 52436
Case created: 7th Apr 2017
Last edited: 26th Apr 2017
Inclusion in quiz mode: Included

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