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Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

ABSTRACT: 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.

SUBMITTER: Hishimura N

PROVIDER: S-EPMC5224771 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Hishimura Nozomi N Watari Michiko M Ohata Hiroki H Fuseya Naho N Wakiguchi Sadae S Tokutomi Tomoharu T Okuhara Kouji K Takahashi Nobuhiro N Iizuka Susumu S Yamamoto Hiroshi H Mishima Takashi T Fujieda Satoko S Kobayashi Ryoji R Cho Kazutoshi K Kuroda Yukiko Y Kurosawa Kenji K Tonoki Hidefumi H

Clinical case reports 20161117 1

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. ...[more]

PMID: 28096980

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