First-Trimester Prenatal Diagnosis of Okihiro Syndrome

被引：4

作者：

Becker, R. ^{[1
]}

Horn, D. ^{[2
]}

Knoll, U. ^{[1
]}

Stumm, M. ^{[1
]}

Wegner, R. D. ^{[1
]}

Peters, H. ^{[2
]}

Sarioglu, N. ^{[3
]}

机构：

[1] Free Univ Berlin, Ctr Prenatal Diag, DE-10719 Berlin, Germany

[2] Charite, Inst Med Genet, Berlin, Germany

[3] Charite, Dept Paidopathol, Berlin, Germany

来源：

FETAL DIAGNOSIS AND THERAPY | 2010年 / 27卷 / 04期

关键词：

Okihiro syndrome; First-trimester prenatal diagnosis; Ultrasound; HOLT-ORAM-SYNDROME; RENAL-OCULAR SYNDROME; SONOGRAPHIC DIAGNOSIS; HYPOPLASIA; MUTATIONS;

D O I：

10.1159/000287252

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

A case of Okihiro syndrome (OS) detected by 2- and confirmed by 3-dimensional ultrasound at 13+2 gestational weeks is reported. While the pregnant woman affected by the OS presented with limb anomalies, the fetus showed severe thoracoabdominal and skeletal anomalies. Termination of pregnancy was performed at 14+1 gestational weeks and confirmed the sonographically detected symptoms. The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS. Copyright (C) 2010 S. Karger AG, Basel

引用

页码：222 / 226

页数：5

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