Pretorius D H, Rumack C M, Manco-Johnson M L, Manchester D, Meier P, Bramble J, Clewell W
Radiology. 1986 Apr;159(1):237-42. doi: 10.1148/radiology.159.1.3513248.
A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or within 2 weeks after delivery in all cases. US examination showed other associated abnormalities, including polyhydramnios, hydrops, shortened femurs, and CNS abnormalities. Radiographs confirmed these findings and provided more information regarding the shape of the limbs and thorax and the appearance of the spine. The probable diagnosis of lethal short-limbed dwarfism was made antenatally using US in eleven of the fetuses. Spinal appearance, thoracic shape, and associated hydrops and polyhydramnios were most helpful in determining the specific type of dysplasia present. Lethal short-limbed skeletal dysplasia may be diagnosed confidently in utero using US examination; however, obstetric plain film radiography may be required to determine the definitive type of dysplasia. In certain cases, US may be sufficient to make a definitive diagnosis.
对1981年至1984年间接受超声（US）检查的13例患有致死性骨骼发育不良的短肢胎儿进行了一项回顾性研究。具体诊断包括致死性侏儒症、软骨发育不全、成骨不全和弯肢性侏儒症。所有病例均在子宫内死亡或在分娩后2周内死亡。超声检查显示了其他相关异常，包括羊水过多、水肿、股骨缩短和中枢神经系统异常。X线片证实了这些发现，并提供了有关四肢和胸部形状以及脊柱外观的更多信息。在11例胎儿中，产前通过超声做出了致死性短肢侏儒症的可能诊断。脊柱外观、胸廓形状以及相关的水肿和羊水过多对确定存在的发育异常的具体类型最有帮助。使用超声检查可在子宫内可靠地诊断致死性短肢骨骼发育不良；然而，可能需要产科平片X线摄影来确定发育异常的最终类型。在某些情况下，超声可能足以做出明确诊断。
