The main giveaway is the presence of multiple deformities.
- Patient sitting on a wheel chair
- Note that patient is on chair
- Appears to have scoliosis but I would like to remove the shirt and to evaluate from the back
- Multiple deformities of the LL with bowing of femur tibia, UL
- “This patient appears to have features of osteogenesis imperfecta, I would like to go on to confirm my diagnosis”
- Eyes - blue sclera
- Mouth - Osteogenesis dentinogenesis
- UL - deformities like anterior humeral bowing
- LL - deformities like saber deformity of tibia, shepards crook/ lateral bowing of femur
- Scars - for previous corrective surgeries if limbs are straight
- Beighton score for hyperlaxity (type 1 collagen defect also)
- Complete exam - offer
- Neurological exam - Scoliosis and basilar invagination
- CVM asculatation - aortic valve defects
