Fetal Escobar syndrome – a case report

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.