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Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography

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Please use this identifier to cite or link to this item:http://hdl.handle.net/2115/48167

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)

Submitter: 山田 崇弘

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