| Title: | Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography |
| Authors: | Yamada, Takahiro Browse this author →KAKEN DB |
| Nishimura, Gen Browse this author |
| Nishida, Keiichiro Browse this author |
| Sawai, Hideaki Browse this author |
| Omatsu, Tokuhiko Browse this author |
| Kimura, Taichi Browse this author |
| Nishihara, Hiroshi Browse this author |
| Shono, Rina Browse this author |
| Shimada, Shigeki Browse this author |
| Morikawa, Mamoru Browse this author |
| Mizushima, Masato Browse this author |
| Yamada, Takashi Browse this author |
| Cho, Kazutoshi Browse this author |
| Tanaka, Shinya Browse this author |
| Shirato, Hiroki Browse this author |
| Minakami, Hisanori Browse this author |
| Keywords: | 3D-CT |
| asphyxiating thoracic dystrophy (ATD) |
| Jeune syndrome |
| prenatal diagnosis |
| short-rib polydactyly syndrome (SRP) |
| Issue Date: | Feb-2011 |
| Publisher: | Blackwell Publishing |
| Journal Title: | Journal of Obstetrics and Gynaecology Research |
| Volume: | 37 |
| Issue: | 2 |
| Start Page: | 151 |
| End Page: | 155 |
| Publisher DOI: | 10.1111/j.1447-0756.2010.01324.x |
| PMID: | 21159031 |
| Abstract: | We present a case of short-rib polydactyly syndrome (SRP) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. SRPs 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 SRPs 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. |
| Rights: | The definitive version is available at Wiley Online Library, www.wileyonlinelibrary.com |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/48167 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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