title: 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.
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Nozomi
authors.initials: N
authors.lastname: Hishimura
authors.affiliation: Department of Obstetrics and Gynecology Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Watari
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Ohata
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Naho
authors.initials: N
authors.lastname: Fuseya
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Sadae
authors.initials: S
authors.lastname: Wakiguchi
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Tomoharu
authors.initials: T
authors.lastname: Tokutomi
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Kouji
authors.initials: K
authors.lastname: Okuhara
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Iizuka
authors.affiliation: Department of Pediatric Surgery Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamamoto
authors.affiliation: Department of Obstetrics and Gynecology Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Mishima
authors.affiliation: Department of Obstetrics and Gynecology Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Fujieda
authors.affiliation: Department of Pediatrics Sapporo Hokuyu Hospital 6-6 Higashi-Sapporo Sapporo 003-0006 Japan.
authors.forename: Ryoji
authors.initials: R
authors.lastname: Kobayashi
authors.affiliation: Maternity and Perinatal Care Center Hokkaido University Hospital N-15, W-7 Sapporo 060-8638 Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Cho
authors.affiliation: Division of Medical Genetics Kanagawa Children's Medical Center 2-138-4 Mutsukawa Minami-ku Yokohama 232-8555 Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kuroda
authors.affiliation: Division of Medical Genetics Kanagawa Children's Medical Center 2-138-4 Mutsukawa Minami-ku Yokohama 232-8555 Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.affiliation: Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
keywords: Mutation; SETBP1; Schinzel–Giedion syndrome; prenatal diagnosis