两名患有申泽尔-吉迪恩综合征的日本患者的遗传学和产前检查结果。
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
作者信息
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
机构信息
Department of Pediatrics Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
Department of Obstetrics and Gynecology Tenshi Hospital N-12, E-3 Sapporo 065-8611 Japan.
出版信息
Clin Case Rep. 2016 Nov 17;5(1):5-8. doi: 10.1002/ccr3.738. eCollection 2017 Jan.
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.
我们报告了两名患有辛泽尔-吉迪恩综合征的日本患者。当观察到羊水过多时，其他胎儿表现，如手指重叠、脑积水、肾积水，以及非常典型的面部外观，包括高额、前额突出、眼距过宽和鼻根凹陷，可能提示辛泽尔-吉迪恩综合征。
Zotero 插件