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.

Department

Description

Provenance

Subjects

Mutation, SETBP1, Schinzel–Giedion syndrome, prenatal diagnosis

Citation

Published Version (Please cite this version)

10.1002/ccr3.738

Publication Info

Hishimura, Nozomi, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Tomoharu Tokutomi, Kouji Okuhara, Nobuhiro Takahashi, et al. (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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