Literature DB >> 24151023

Prenatal diagnosis of Robinow syndrome: a case report.

Simon Castro1, Efren Peraza, Astrid Barraza, Marco Zapata.   

Abstract

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. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  Robinow syndrome; fetal face syndrome; fetal malformations; prenatal diagnosis; sonography

Mesh:

Year:  2013        PMID: 24151023     DOI: 10.1002/jcu.22103

Source DB:  PubMed          Journal:  J Clin Ultrasound        ISSN: 0091-2751            Impact factor:   0.910


  4 in total

Review 1.  Clinical spectrum of female genital malformations in prenatal diagnosis.

Authors:  Michael R Mallmann; Ulrich Gembruch
Journal:  Arch Gynecol Obstet       Date:  2022-02-27       Impact factor: 2.344

2.  Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Authors:  Bolette F Jeppesen; Hanne B Hove; Sven Kreiborg; Nuno V Hermann; Tron A Darvann; Finn Stener Jørgensen
Journal:  Clin Case Rep       Date:  2017-05-16

Review 3.  A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Authors:  Ruolan Hu; Yu Qiu; Yifei Li; Jinrong Li
Journal:  Mol Genet Genomic Med       Date:  2022-02-09       Impact factor: 2.183

4.  Obstetrical Challenges in Robinow Syndrome.

Authors:  Yingao Zhang; Marco Casanova; Matthew Shanahan; V Reid Sutton; Karin Fox
Journal:  Case Rep Obstet Gynecol       Date:  2022-07-22
  4 in total

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