Prenatal Diagnosis of Robinow Syndrome: A Case Report

被引：6

作者：

Castro, Simon ^{[1
]}

Peraza, Efren ^{[1
]}

Barraza, Astrid ^{[2
]}

Zapata, Marco ^{[1
]}

机构：

[1] Hosp Gen Dr Norberto Trevino Zapata, Dept Obstet & Gynecol, Victoria, Tamaulipas, Mexico

[2] Hosp Infantil Ciudad Victoria, Dept Genet, Tamaulipas, Mexico

来源：

JOURNAL OF CLINICAL ULTRASOUND | 2014年 / 42卷 / 05期

关键词：

Robinow syndrome; fetal face syndrome; prenatal diagnosis; sonography; fetal malformations; AUTOSOMAL-DOMINANT;

D O I：

10.1002/jcu.22103

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. (c) 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014

引用

页码：297 / 300

页数：4

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[2] ROBINOW SYNDROME - A CASE-REPORT
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DESANTIS, L
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[J]. RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1988, 14 (02): : 231 - 233
[3] A CASE-REPORT OF ROBINOW SYNDROME
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