By Disease Name > Osteogenesis Imperfecta

Osteogenesis Imperfecta

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four recognized forms (I-IV) - each has an autosomal dominant form (types II and III also AR form)
most common = type I (50%)
basic defect = synthesis of abnormal type I collagen
patients with type I and IV have normal life span
Pamidronate (biphosphonate) a potent inhibitor of bone resorption