彭税 李俊 董宇

    [关键词] 新生儿;成骨不全;骨骼发育障碍;文献复习

    [中图分类号] R681.1? ? ? ? ? [文献标识码] C? ? ? ? ? [文章编号] 1673-9701(2021)23-0142-04

    A case of osteogenesis imperfecta and literature review

    PENG Shui1? ?LI Jun2? ?DONG Yu2

    1.Changzhi Medical College， Changzhi? ?046000， China; 2.Changzhi People′s Hospital in Shanxi Province， Changzhi 046000， China;3.Department of Neonatology， Changzhi People′s Hospital in Shanxi Province， Changzhi? ?046000， China

    [Abstract] Osteogenesis imperfecta (OI)， also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome， is a rare congenital skeletal development disorder caused by bone matrix synthesis disorders and homeostasis disorders. The prevalence rate is only 1/20 000-1/15 000. The disease has an obvious family history and heredity. The inheritance is mainly autosomal dominant. Some cases are autosomal recessive inheritance and X chromosome-linked inheritance. There are also a few single cases. Most of the disease is caused by mutations in the important bone matrix protein type Ⅰ collagen encoding gene and its metabolism-related genes ......