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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
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.
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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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