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Osteogenesis
imperfecta (Pathophysiology (Defect
Disorder of type I…
Osteogenesis
imperfecta
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Pathophysiology
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Mechanism
Bone fragility, bowing and fractures
Blue sclerae (translucent cornea)
Types
Type 1: mildest, commonest, AD
Type 2: lethal perinatal, AR
Type 3: severe, AR, reduced life expectancy
Type 4: moderate, AD
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Diagnosis
Examination
General exam
Blue sclera, bowed legs,
transparent/discoloured teeth
Investigations
Bloods
FBC, U+E, LFT, bone profile,
Ca, vit D (exclude rickets)
Genetic screen
Imaging
X-rays: multiple fractures, osteoporotic,
bowing of long bones
Bedside
Measurements (height, weight, BMI)
History
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SH
Living arrangements, school/nursery,
exercise, diet, social services
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Management
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Conservative
Information, advice, support
Genetic counselling
Lifestyle (avoid contact sports, diet)
Splinting for fractures (reduce deformity)
Physio, OT
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