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Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome
We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal roo...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224771/ https://www.ncbi.nlm.nih.gov/pubmed/28096980 http://dx.doi.org/10.1002/ccr3.738 |
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author | Hishimura, Nozomi Watari, Michiko Ohata, Hiroki Fuseya, Naho Wakiguchi, Sadae Tokutomi, Tomoharu Okuhara, Kouji Takahashi, Nobuhiro Iizuka, Susumu Yamamoto, Hiroshi Mishima, Takashi Fujieda, Satoko Kobayashi, Ryoji Cho, Kazutoshi Kuroda, Yukiko Kurosawa, Kenji Tonoki, Hidefumi |
author_facet | Hishimura, Nozomi Watari, Michiko Ohata, Hiroki Fuseya, Naho Wakiguchi, Sadae Tokutomi, Tomoharu Okuhara, Kouji Takahashi, Nobuhiro Iizuka, Susumu Yamamoto, Hiroshi Mishima, Takashi Fujieda, Satoko Kobayashi, Ryoji Cho, Kazutoshi Kuroda, Yukiko Kurosawa, Kenji Tonoki, Hidefumi |
author_sort | Hishimura, Nozomi |
collection | PubMed |
description | We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel–Giedion syndrome. |
format | Online Article Text |
id | pubmed-5224771 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-52247712017-01-17 Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome Hishimura, Nozomi Watari, Michiko Ohata, Hiroki Fuseya, Naho Wakiguchi, Sadae Tokutomi, Tomoharu Okuhara, Kouji Takahashi, Nobuhiro Iizuka, Susumu Yamamoto, Hiroshi Mishima, Takashi Fujieda, Satoko Kobayashi, Ryoji Cho, Kazutoshi Kuroda, Yukiko Kurosawa, Kenji Tonoki, Hidefumi Clin Case Rep Case Reports We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel–Giedion syndrome. John Wiley and Sons Inc. 2016-11-17 /pmc/articles/PMC5224771/ /pubmed/28096980 http://dx.doi.org/10.1002/ccr3.738 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Hishimura, Nozomi Watari, Michiko Ohata, Hiroki Fuseya, Naho Wakiguchi, Sadae Tokutomi, Tomoharu Okuhara, Kouji Takahashi, Nobuhiro Iizuka, Susumu Yamamoto, Hiroshi Mishima, Takashi Fujieda, Satoko Kobayashi, Ryoji Cho, Kazutoshi Kuroda, Yukiko Kurosawa, Kenji Tonoki, Hidefumi Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title | Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title_full | Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title_fullStr | Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title_full_unstemmed | Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title_short | Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome |
title_sort | genetic and prenatal findings in two japanese patients with schinzel–giedion syndrome |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224771/ https://www.ncbi.nlm.nih.gov/pubmed/28096980 http://dx.doi.org/10.1002/ccr3.738 |
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