Osteogenesis Imperfecta

  • Ruchita Patel
  • Pauline M. CamachoEmail author


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.


Osteogenesis imperfecta Osteoporosis in childhood Type I collagen defect 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Endocrinology, Diabetes and MetabolismAdvocate Christ Medical CenterOak LawnUSA
  2. 2.Division of Endocrinology and MetabolismLoyola University Medical Center, Loyola University Osteoporosis and Metabolic Bone Disease CenterMaywoodUSA

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