Yamada Takahiro, Nishimura Gen, Nishida Keiichiro, Sawai Hideaki, Omatsu Tokuhiko, Kimura Taichi, Nishihara Hiroshi, Shono Rina, Shimada Shigeki, Morikawa Mamoru, Mizushima Masato, Yamada Takashi, Cho Kazutoshi, Tanaka Shinya, Shirato Hiroki, Minakami Hisanori
Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
J Obstet Gynaecol Res. 2011 Feb;37(2):151-5. doi: 10.1111/j.1447-0756.2010.01324.x. Epub 2010 Dec 16.
We present a case of short-rib polydactyly syndrome (SRPs) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. SRP encompass a heterogeneous group of lethal skeletal dysplasias. However, the phenotypes overlap with those of nonlethal skeletal dysplasias (i.e. Ellis-van Creveld syndrome and Jeune syndrome). As accurate prenatal diagnosis of SRP is helpful for parents, we used 3D-CT in the early third trimester to examine a fetus suggested to have phenotypes of 'short-rib dysplasia group' on ultrasonography. 3D-CT showed mild modification of the vertebral bodies, small ilia with horizontal acetabula and triangular partial ossification defects, and subtle metaphyseal irregularities of the femora. These CT findings and an extensive literature search regarding the phenotypes of various diseases categorized as short-rib dysplasia group led to a correct prenatal diagnosis of SRP type 3. This case exemplified the usefulness of 3D-CT for the precise prenatal diagnosis of skeletal dysplasias.
我们报告一例3型短肋多指综合征（SRPs），其中使用超声检查和3D-CT均可实现准确的产前诊断。SRP包括一组异质性的致死性骨骼发育不良。然而，其表型与非致死性骨骼发育不良（即埃利斯-范克里维尔德综合征和热纳综合征）的表型重叠。由于SRP的准确产前诊断对父母有帮助，我们在孕晚期早期使用3D-CT检查了一名在超声检查中提示具有“短肋发育不良组”表型的胎儿。3D-CT显示椎体轻度改变、髋臼水平的小髂骨和三角形部分骨化缺陷，以及股骨干骺端细微不规则。这些CT表现以及对归类为短肋发育不良组的各种疾病表型的广泛文献检索，导致对3型SRP做出了正确的产前诊断。该病例例证了3D-CT在骨骼发育不良精确产前诊断中的有用性。
