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首页> 外文期刊>The Journal of Musculoskeletal and Neuronal Interactions >Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges
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Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges

机译：由于可能发生新的COL1A2突变，导致成骨不全;表型和诊断挑战的重要性

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A 6 month-old boy fractured his right tibia, when he fell from a couch (50 cm height). One month later, he accidently kicked his leg against a desk. He was diagnosed with a frac- ture of the rig ht femur. The following month, he again fell from a couch, sustaining a new frac ture of the right femur. In addition to the frac ture, his x-ray showed thin, osteopenic bones (Figure 1). At the age of 11 months, the boy was assessed in our in- stitution, in order to reac h a diagnosis which would explain his three low-energy fractures. An eye check revealed blue sclera, hear t sounds were nor mal, as wer e his teeth. His full metabolic bone profile (Table 1), showed low levels of procol- lagen type 1 C-ter minal propeptide (PICP).
机译：一个6个月大的男孩从沙发（50厘米高）摔下时，右胫骨骨折。一个月后，他不小心将脚踢到了桌子上。他被诊断患有股骨骨折。第二个月，他再次从沙发上摔下来，支撑了右股骨的新骨折。除骨折外，他的X射线还显示出骨质疏松的细骨（图1）。在11个月大时，该男孩在我们的机构接受了评估，以进行诊断，可以解释他的3例低能量骨折。眼睛检查发现巩膜呈蓝色，听见声音听起来很正常，就像他的牙齿一样。他完整的代谢性骨分布（表1）显示出低水平的促凝素1型C端前肽（PICP）。

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