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Osteopetrosis (Diagnosis (History (PMH
Growth and development
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Osteopetrosis
Diagnosis
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Investigations
Bloods
FBC (pancytopenia), U+E, LFT, bone profile, Ca (low)
Genetic screen
Imaging
X-ray: high density, bone in a bone appearance
Bedside
Measurements (height, weight)
Centile charts
History
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PC/HPC
Recurrent fractures, poor growth,
recurrent infections
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SH
living arrangements, nursery/school,
diet, exercise, social services
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Management
Conservative
Information, advice, support
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Definition
Genetic orthopedic disorder
of hard, dense, brittle bones
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