【摘 要】
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Osteogenesis imperfecta (OI) is a heterogeneous group of genetically disorders of connective tissue.Quantitative or qualitative abnormalities of type Ⅰ collagen form pathogenetical basis of the diseas
【机 构】
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Department of Radiology,The Third Affiliated Hospital of Guangzhou Medical University
【出 处】
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ISUOG第十届国际妇产科超声医学研讨会
论文部分内容阅读
Osteogenesis imperfecta (OI) is a heterogeneous group of genetically disorders of connective tissue.Quantitative or qualitative abnormalities of type Ⅰ collagen form pathogenetical basis of the disease.They are caused by mutations in genes encoding collagen proteins or enzymes involved in collagen biosynthesis.We present the clinical features of one case of OI diagnosed in utero by ultrasound examination.These included fragile bones with multiple bone fractures and bone deformities.Postmorterm computed tomography (CT),radiography,and molecular testing are performed for making an accurate diagnosis.We applied next-generation sequencing to analyze the exome.No mutation related to the common OI subtypes Ⅰ,Ⅱ,Ⅲ,Ⅳ,Ⅶ was identified.Further study is necessary.
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