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首页> 外文期刊>Pediatric radiology >Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs
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Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs

机译：Grebe发育不良 - 基于胎儿肢体三维超声图像的产前诊断

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摘要

Grebe dysplasia is a rare skeletal dysplasia characterized by severe acromesomelic shortening of the long bones in a proximal to distal gradient of severity, with bones of the hands and feet more severely affected than those of the forearms and legs, which in turn are more severely affected than the humeri and femora. In addition, the bones of the lower extremities tend to be more severely affected than the bones of the upper extremities. Despite the severe skeletal deformities, the condition is not lethal and surviving individuals can have normal intelligence. Herein we report a case of Grebe dysplasia diagnosed at 20 weeks of gestation. Rendered 3-D ultrasound images of the fetal limbs, particularly of the characteristic tiny and globular-looking fingers and toes, were instrumental in accurately characterizing the phenotype prenatally.
机译：格雷贝发育不良是一种罕见的骨骼发育不良，其特征在于严重的acromesomelic缩短了长骨的近端到远端梯度的远端梯度，用手和脚的骨骼受到前臂和腿部的骨骼，又受到更严重影响 而不是悍马和股骨。 另外，下肢的骨骼往往受到上末端的骨骼受到更严重的影响。 尽管骨骼畸形严重，但病情不是致命的，幸存的人可以具有正常的智力。 在此，我们报告了在妊娠20周诊断出来的Grebe发育不良的病例。 呈现了胎肢的3-D超声图像，特别是特有的微小和球状的手指和脚趾，是在准确地表征上产量的仪器。

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