トクトミ　トモハル   Tomoharu Tokutomi   徳富　智明    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   特任教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
掲載誌名	正式名：Clinical case reports
掲載区分	国外
巻・号・頁	5(1),pp.5-8
著者・共著者	Nozomi Hishimura,Michiko Watari,Hiroki Ohata,Naho Fuseya,Sadae Wakiguchi,Tomoharu Tokutomi,Kouji Okuhara,Nobuhiro Takahashi,Susumu Iizuka,Hiroshi Yamamoto,Takashi Mishima,Satoko Fujieda,Ryoji Kobayashi,Kazutoshi Cho,Yukiko Kuroda,Kenji Kurosawa,Hidefumi Tonoki
発行年月	2017/01
概要	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.
DOI	10.1002/ccr3.738
PMID	28096980