| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2013-08-27 |
| タイトル |
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|
タイトル |
An autopsy case of cyclopia with 13 trisomy with special reference to histological abnormalities of the eyeball |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
cyclopia |
| キーワード |
|
|
主題 |
holoprosencephaly |
| キーワード |
|
|
主題 |
13trisomy |
| キーワード |
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|
主題 |
synophthalmia |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Kawasaki, Hideya
Baba, Satoshi
Kosugi, Isao
Tsutsui, Yoshihiro
Miura, Katsutoshi
Omori, Hajime
Tokunaga, Naoki
Kobayashi, Takao
|
| 書誌情報 |
Congenital anomalies
巻 40,
号 2,
p. 123-130,
発行日 2000-06
|
| 出版者 |
|
|
出版者 |
日本先天異常学会 |
| 権利 |
|
|
権利情報 |
© 2000 日本先天異常学会 |
| 権利 |
|
|
権利情報 |
本文データは学協会の許諾に基づきCiNiiから複製したものである |
| 抄録 |
|
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内容記述タイプ |
Abstract |
|
内容記述 |
We present an autopsy case of cyclopia and alobar holoprosencephaly and polydactyly with 13 trisomy. A 27 year-old Japanese female at the 27th gestational week was diagnosed as hydramnios and the fetus showed hydrocephalus and intrauterine growth retardation. The fetus was suspected to be cyclopic and holoprosencephalic by ultrasonograph and MRI images. The mother delivered a stillborn male baby at the 30th week of gestation. At autopsy, the baby showed true cyclopia having one eyeball and two irides in a single ocular opening, and one proboscis. On histological analysis of the eye, there was marked dysplastic hyperplasia of the retina with rosettes, focal degeneration of the retina with calcification, and prominent proliferation of glial cells beneath the hyperplastic retina. Multiple glomerular structures in the cerebral cortex and aplasia of the corticospinal tract were observed. In the spinal cord, a few neurons with pyknosis were observed in the ventral horn. Although no mutation was detected in the Sonic hedgehog in the present case, we reviewed recent studies concerning the molecular mechanisms of cyclopia and holoprosencephaly. |
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
09143505 |
| NII論文ID |
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関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
NAID |
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関連識別子 |
110002785627 |
| 出版社DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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|
関連識別子 |
10.1111/j.1741-4520.2000.tb00917.x |
| 著者版フラグ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
CongAnomal-40-123.pdf (4.5 MB)
