Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
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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.
Published Version (Please cite this version)10.1002/ccr3.738
Publication InfoHishimura, Nozomi; Watari, Michiko; Ohata, Hiroki; Fuseya, Naho; Wakiguchi, Sadae; Tokutomi, Tomoharu; ... Tonoki, Hidefumi (2017). Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. Clinical case reports, 5(1). pp. 5-8. 10.1002/ccr3.738. Retrieved from https://hdl.handle.net/10161/17550.
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