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Bone diseases, skeletal dysplasias, and collagen disorders 

Bone diseases, skeletal dysplasias, and collagen disorders
Chapter:
Bone diseases, skeletal dysplasias, and collagen disorders
Author(s):

Brogan Foster

and Paul A. Brogan

DOI:
10.1093/med/9780198738756.003.0005
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date: 18 August 2019

This chapter provides detailed clinical descriptions and treatment guidance for metabolic bone diseases, skeletal dysplasias, the osteochondroses, and heritable disorders of connective tissue. It provides updated descriptions of osteoporosis (both primary and secondary), rickets, osteopetrosis, avascular necrosis, and guidance on the use of bone densitometry in children. An extensive description of the skeletal dysplasias is provided, including a table for easy reference summarising the principal clinical features, radiological findings, and genetics of more commonly encountered conditions. Comprehensive clinical descriptions of the osteochondroses, including features found on imaging, differential diagnoses, important clinical pitfalls to be wary of, and treatment recommendations are provided. The heritable disorders of connective tissue are described in detail, and fully updated with current nosology, including Ehlers–Danlos syndromes, Marfan syndrome, and osteogenesis imperfecta.

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