Ikeda Shoko, Akamatsu Chika, Ijuin Akifumi, Nagashima Ami, Sasaki Megumi, Mochizuki Akihiko, Nagase Hiromi, Enomoto Yumi, Kuroda Yukiko, Kurosawa Kenji, Ishikawa Hiroshi
Department of Obstetrics and Gynecology, Kanagawa Children's Medical Center, Yokohama, Japan.
Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Hum Genome Var. 2020 Oct 2;7:32. doi: 10.1038/s41439-020-00119-5. eCollection 2020.
Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of .
弗雷泽综合征（FS）涉及多种畸形，在兄弟姐妹中有25%的复发风险。然而，这些畸形在产前很难检测到，从而妨碍了产前诊断。在此，我们描述一例通过超声检查诊断为FS的胎儿。超声检查显示先天性高气道梗阻综合征和肾缺如。出生后发现双手并指和隐眼畸形，基因分析证实了诊断，基因分析显示了新的复合杂合变异。
