Problems of early diagnosis and perinatology care in osteogenesis imperfecta – experience of clinic team
نویسندگان
چکیده
We present difficulties in prenatal diagnosis and treatment in newborns with brittle bone diseases type II and III. It has been noted that skeletal dysplasia can be recognised with fetal ultrasound examination. The methods of osteogenesis imperfecta infant care in the first day of life have been proposed.
منابع مشابه
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
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