Open AccessGenetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome
Author(s) -
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
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.738
Subject(s) - medicine , prenatal diagnosis , genetics , fetus , pregnancy , biology
Key Clinical Message 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.