open access

Vol 85, No 8 (2014)
ARTICLES
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Fetal Escobar syndrome – a case report

Tomasz Olejniczak, Joanna Niepsuj-Biniaś, Dorota Rabiega-Gmyrek, Bogna Guglas-Bochyńska, Tomasz Opala
DOI: 10.17772/gp/1784
·
Ginekol Pol 2014;85(8).

open access

Vol 85, No 8 (2014)
ARTICLES

Abstract

The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy, resulting in the birth of a healthy newborn.

Abstract

The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy, resulting in the birth of a healthy newborn.
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Keywords

Escobar syndrome, multiple pterygium syndrome – MPS, arthrogryposis intrauterine growth restriction – IUGR

About this article
Title

Fetal Escobar syndrome – a case report

Journal

Ginekologia Polska

Issue

Vol 85, No 8 (2014)

DOI

10.17772/gp/1784

Bibliographic record

Ginekol Pol 2014;85(8).

Keywords

Escobar syndrome
multiple pterygium syndrome – MPS
arthrogryposis intrauterine growth restriction – IUGR

Authors

Tomasz Olejniczak
Joanna Niepsuj-Biniaś
Dorota Rabiega-Gmyrek
Bogna Guglas-Bochyńska
Tomasz Opala

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