Spirt B A, Oliphant M, Gottlieb R H, Gordon L P
Department of Radiology, SUNY Health Science Center, Syracuse 13210.
Radiographics. 1990 Mar;10(2):217-36. doi: 10.1148/radiographics.10.2.2183297.
Prenatal sonographic evaluation of short-limbed dwarfism is initiated when a significantly shortened femur is found or by referral of a patient with a family history of skeletal dysplasia. If a short femur is demonstrated, all the long bones are measured and evaluated for bowing, fractures, and mineralization. The bone dysplasia is categorized according to whether it is mesomelic, rhizomelic, or micromelic and whether bowing or fractures are present. The fetal spine, head, thorax, hands, and feet are carefully evaluated to differentiate the type of bone dysplasia and to determine whether it is lethal. Serial examinations may be necessary. This approach will provide sufficient information to counsel the family, manage the pregnancy, and direct the postnatal evaluation.
当发现股骨明显缩短或由有骨骼发育异常家族史的患者转诊时，即开始对短肢侏儒症进行产前超声评估。如果显示股骨短小，则测量所有长骨并评估其弯曲、骨折和矿化情况。根据骨发育异常是中肢、肢根或肢端型以及是否存在弯曲或骨折进行分类。仔细评估胎儿的脊柱、头部、胸部、手和脚，以区分骨发育异常的类型并确定其是否致命。可能需要进行系列检查。这种方法将提供足够的信息，以便为家庭提供咨询、管理妊娠并指导产后评估。
