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Osteogenesis Imperfecta

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Metabolic Bone Diseases

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Abstract

Osteogenesis imperfecta is a rare inherited disorder that is the most common cause of osteoporosis in children. There are many types or categories of osteogenesis imperfecta, and each of these types has a distinct pattern of inheritance, genes or proteins involved, and differences in clinical manifestations. Mutations in the two genes coding for type I collagen are largely responsible for majority of cases of osteoporosis imperfecta. We present a clinical case of an adult patient with osteogenesis imperfecta and will subsequently discuss osteogenesis imperfecta classification, clinical manifestations, and treatment for metabolic bone abnormalities related to this disorder.

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Author information

Authors and Affiliations

  1. Department of Endocrinology, Diabetes and Metabolism, Advocate Christ Medical Center, Oak Lawn, IL, USA

    Ruchita Patel

  2. Division of Endocrinology and Metabolism, Loyola University Medical Center, Loyola University Osteoporosis and Metabolic Bone Disease Center, Maywood, IL, USA

    Pauline M. Camacho

Authors
  1. Ruchita Patel
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  2. Pauline M. Camacho
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Correspondence to Pauline M. Camacho .

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Editors and Affiliations

  1. Division of Endocrinology and Metabolism, Loyola University Medical Center, Maywood, IL, USA

    Pauline M. Camacho

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Patel, R., Camacho, P.M. (2019). Osteogenesis Imperfecta. In: Camacho, P. (eds) Metabolic Bone Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-03694-2_10

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  • DOI: https://doi.org/10.1007/978-3-030-03694-2_10

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-03693-5

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